DOCSLIB.ORG

Elejalde Syndrome a Melanolysosomal

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Elejalde Syndrome a Melanolysosomal OBSERVATION Elejalde Syndrome—A Melanolysosomal Neurocutaneous Syndrome Clinical and Morphological Findings in 7 Patients Carola Duran-McKinster, MD; Rodolfo Rodriguez-Jurado, MD; Cecilia Ridaura, MD; M. A. de la Luz Orozco-Covarrubias, MD; Lourdes Tamayo, MD; Ramon Ruiz-Maldonando, MD Background: Silvery hair and severe dysfunction of the and seizures. Mental retardation since the first months central nervous system (neuroectodermal melanolyso- of life was noted in 4 cases. Psychomotor development somal disease or Elejalde syndrome) characterize this rare was normal in 3 cases, but suddenly the patients pre- autosomal recessive disease. Main clinical features in- sented with a regressive neurologic process. Four pa- clude silver-leaden hair, bronze skin after sun expo- tients died between 6 months and 3 years after the onset sure, and neurologic involvement (seizures, severe hy- of neurologic dysfunction. One patient showed charac- potonia, and mental retardation). Large granules of teristic ultrastructural findings of Elejalde syndrome. melanin unevenly distributed in the hair shaft are ob- served. Abnormal melanocytes and melanosomes and ab- Conclusions: Elejalde syndrome is different from Che´- normal inclusion bodies in fibroblasts may be present. diak-Higashi and Griscelli syndrome and is character- Differential diagnosis with Che´diak-Higashi syndrome ized by silvery hair and frequent occurrence of fatal neu- and Griscelli syndrome must be done. rologic alterations. Psychomotor impairment may have 2 forms of presentation: congenital or infantile. Al- Observations: We studied pediatric patients with sil- though Elejalde syndrome and Griscelli syndrome are very hair and profound neurologic dysfunction. Im- similar, the possibility that they are 2 different diseases, mune impairment was absent. Age of onset of neuro- although probably allelic related, is suggested. logic signs ranged from 1 month to 11 years; the signs included severe muscular hypotonia, ocular alterations, Arch Dermatol. 1999;135:182-186 ILVERY hair was first recog- distribution of melanin in small and large nized as a pathologic feature clumps irregularly arranged along the hair in Che´diak-Higashi syn- shaft was observed. No accelerated phase drome (CHS).1-3 Oculocuta- has been reported in these patients but re- neous hypopigmentation and current infections and early death are the silvery-gray hair, a marked defective che- usual outcomes. S 5 motaxis of neutrophils, and an apparent In 1979, Elejalde et al first de- association with lymphoid malignancy scribed 3 consanguineous families as hav- characterize this rare autosomal reces- ing neuroectodermal melanolysosomal dis- sive disorder. The diagnosis is usually ease (NEMLD). The main features were an based on the presence of pathogno- autosomal recessive heredity character- monic, anomalous giant cytoplasmic gran- ized by silvery hair, profound dysfunc- ules in neutrophils and in a wide variety tion of the central nervous system, abnor- of other granule-containing cells. Mela- mal melanocytes and melanosomes, and nin in the hair shaft is abnormally distrib- abnormal inclusion bodies in fibroblasts uted in multiple small clumps with a regu- and other cells. Apparently ignoring Ele- lar pattern. Death occurs at an early age, jalde’s description, in recent years sev- following an “accelerated phase” after eral articles have been published describ- From the Departments which infections and/or lymphomalike or- ing patients with the combination of silvery of Dermatology gan infiltration occurs.3 hair and neurologic involvement with- (Drs Duran-McKinster, In 1978, Griscelli et al4 described a out giant cytoplasmic granules or immu- de la Luz Orozco-Covarrubias, different condition characterized also by nologic dysfunction and classifying them Tamayo, and Ruiz-Maldonando) 6 and Pathology silvery-gray hair associated with a pro- as having the following diseases: CHS, (Drs Rodriguez-Jurado and foundly disturbed B-cell and T-cell im- Griscelli disease with cerebral involve- Ridaura), National Institute of munity. No abnormal cytoplasmic gran- ment,7 and Griscelli disease with neuro- Pediatrics, Mexico City, Mexico. ules were present in leukocytes. A different logical involvement.8 Unlike CHS and ARCH DERMATOL / VOL 135, FEB 1999 182 ©1999 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/26/2021 Table 1. Clinical Features* PATIENTS AND METHODS Patient Age at Onset Parents’ Ophthalmological No./Sex of First Signs Consanguinity Examination Results From February 1971 to January 1997, all clinical records 1/M 1 mo Negative Nystagmus, esotropia of patients with silvery hair seen at the Department of 2/F 3 y Negative Nystagmus, Dermatology of the National Institute of Pediatrics were hypopigmented retina reviewed. Clinical and pathological findings of our pa- 3/F 11 y† Positive Diplopia, papilledema tients were compatible with CHS in 6 cases, GS in 2 cases, 4/M 2 mo† Positive Congenital amaurosis, and Elejalde syndrome in 7 cases. Patients with silvery hypopigmented papilla hair and neurologic involvement were selected for this 5/M 1 mo Negative Pupillar areflexia study. The following data were collected: sex, age, pa- 6/F 6 y Positive Diplopia rental consanguinity and family history, age of onset of 7/F 1 mo† Negative Congenital amaurosis neurologic alterations, ophthalmologic examination, clinicalandneurologicfeatures,andfollow-up.Datafrom *Allpatients had bronzed skin color and silver-gray hair color. the following laboratory tests were recorded: complete †With other family members affected. peripheral blood cell count from the 6 patients and bone marrow aspirate from 3. Immunologic studies in all pa- tients included serum IgG, IgA, and IgM. Antinuclear antibodies, complement, and phagocytic function were tested with nitroblue tetrazolium. Cell-mediated immu- nity was evaluated by delayed hypersensitivity skin tests with phytohemagglutinin, concanavalin A, Candida, and purified protein-derivative (tuberculin) antigens as well as with T-lymphocyte subsets. Isohemagglutinin anti- body titers against blood groups were obtained in pa- tients 1 and 2. A complete neurologic examination was per- formed by an experienced pediatric neurologist in all of the patients. Specific studies included the follow- ing: electroencephalogram, cerebrospinal fluid analy- sis, and visual- and auditory-evoked potentials. Ce- rebral tomographic scan and magnetic resonance imaging were performed for 5 patients. Skin biopsy specimens from the arm or leg were obtained from each patient, and sections were made for light mi- croscopy in all patients and for transmission elec- tron microscopy in 2 (patients 3 and 6). Samples of hair were obtained from all of the pa- tients and parents for light microscopic examination. Figure 1. Characteristic bronzed skin color and silvery hair in scalp, eyelashes, and eyebrows in Elejalde syndrome (patient No. 4). Griscelli syndrome (GS), NEMLD does not exhibit de- scalp and body hair, eyebrows, and eyelashes had a sil- fects in cellular or humoral immunity but a severe im- very color (Figure 1). Skin and hair color of the pa- pairment of the central nervous system. tients contrasted with the dark skin and black hair of fam- Herein, we describe 7 patients with NEMLD (Ele- ily members. Samples of the hair observed by light jalde syndrome) seen in the National Institute of Pedi- microscopy showed the same characteristics in the 7 pa- atrics of Mexico. tients, consisting of an abnormal distribution of mela- nin in small and large clumps, irregularly distributed along RESULTS the hair shaft with no other abnormalities. A complete ophthalmologic examination showed a wide spectrum of The results of the general features are summarized in abnormalities (Table 1). Table 1. The patients’ age at onset of neurologic signs Che´diak-Higashi syndrome and GS were excluded ranged from l month to 11 years (mean age, 3 years). All in the analysis of our patients for the following reasons: patients were born at term after an uneventful preg- there was no clinical or laboratory evidence of immuno- nancy and normal delivery. Consanguinity of the par- logic impairment and abnormal giant intracytoplasmic ents (first or second cousins) was reported in 3 patients. granules in neutrophils could not be found in periph- Three patients had other family members (2 cousins in eral blood smears or in bone marrow aspirates in pa- patient 3, a brother in patient 4, and 2 sisters in patient tients 5, 6, and 7. Patient 6 had the only blood cell count 7) with silvery hair. They had died in the first decade of with persistent leukopenia. Humoral and cellular immu- life following a regressive neurologic process. nologic test results were within normal limits in all cases. In all patients, the physical examination revealed a Neurologic alterations were the most striking features lighter skin color in covered areas that contrasted with (Table 2). The 4 youngest patients (patients 1, 4, 5, and the patient’s bronzed skin on sunlight-exposed areas. The 7) were severely mentally retarded since the first months ARCH DERMATOL / VOL 135, FEB 1999 183 ©1999 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/26/2021 Table 2. Neurologic Features* Neuromuscular Alterations Patient Mental No. Initial Progression Seizures Development Electroencephalogram 1 Hypotonia Spastic quadriparesis Yes Severely retarded Normal 2 Hypotonia Flaccid quadriplegia Yes Regressive
Load more

Recommended publications
  • Melanocytes and Their Diseases
    Downloaded from http://perspectivesinmedicine.cshlp.org/ on October 2, 2021 - Published by Cold Spring Harbor Laboratory Press Melanocytes and Their Diseases Yuji Yamaguchi1 and Vincent J. Hearing2 1Medical, AbbVie GK, Mita, Tokyo 108-6302, Japan 2Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892 Correspondence: [email protected] Human melanocytes are distributed not only in the epidermis and in hair follicles but also in mucosa, cochlea (ear), iris (eye), and mesencephalon (brain) among other tissues. Melano- cytes, which are derived from the neural crest, are unique in that they produce eu-/pheo- melanin pigments in unique membrane-bound organelles termed melanosomes, which can be divided into four stages depending on their degree of maturation. Pigmentation production is determined by three distinct elements: enzymes involved in melanin synthesis, proteins required for melanosome structure, and proteins required for their trafficking and distribution. Many genes are involved in regulating pigmentation at various levels, and mutations in many of them cause pigmentary disorders, which can be classified into three types: hyperpigmen- tation (including melasma), hypopigmentation (including oculocutaneous albinism [OCA]), and mixed hyper-/hypopigmentation (including dyschromatosis symmetrica hereditaria). We briefly review vitiligo as a representative of an acquired hypopigmentation disorder. igments that determine human skin colors somes can be divided into four stages depend- Pinclude melanin, hemoglobin (red), hemo- ing on their degree of maturation. Early mela- siderin (brown), carotene (yellow), and bilin nosomes, especially stage I melanosomes, are (yellow). Among those, melanins play key roles similar to lysosomes whereas late melanosomes in determining human skin (and hair) pigmen- contain a structured matrix and highly dense tation.
    [Show full text]
  • The University of Chicago Genetic Services Laboratories Labolaboratories
    The University of Chicago Genetic Services Laboratories LaboLaboratories5841 S. Maryland Ave., Rm. G701, MC 0077, Chicago, Illinois 60637 3637 [email protected] dnatesting.uchicago.edu CLIA #: 14D0917593 CAP #: 18827-49 Next Generation Sequencing Panel for Albinism Clinical Features: Albinism is a group of inherited disorders in which melanin biosynthesis is reduced or absent [1]. The lack or reduction in pigment can affect the eyes, skin and hair, or only the eyes. In addition, there are several syndromic forms of albinism in which the hypopigmented and visual phenotypes are seen in addition to other systems involvement [2]. Our Albinism Sequencing Panel includes sequence analysis of all 20 genes listed below. Our Albinism Deletion/Duplication Panel includes sequence analysis of all 20 genes listed below. Albinism Sequencing Panel Chediak- Griscelli Oculocutaneous Ocular Hermansky Pudlak syndrome Higashi syndrome Albinism Albinism syndrome TYR SLC45A2 GPR143 HPS1 HPS4 DTNBP1 LYST MYO5A OCA2 SLC24A5 AP3B1 HPS5 BLOC1S3 RAB27A TYRP1 C10ORF11 HPS3 HPS6 BLOC1S6 MLPH Oculocutaneous Albinism Oculocutaneous albinism (OCA) is a genetically heterogeneous congenital disorder characterized by decreased or absent pigmentation in the hair, skin, and eyes. Clinical features can include varying degrees of congenital nystagmus, hypopigmentation and translucency, reduced pigmentation of the retinal pigment epithelium and foveal hypoplasia. Vision acuity is typically reduced and refractive errors, color vision impairment and photophobia also occur [3]. Gene Clinical Features Details TYR Albinism, OCA1 is caused by mutations in the tyrosinase gene, TYR. Mutations completely oculocutaneous, abolishing tyrosinase activity result in OCA1A, while mutations rendering some type I enzyme activity result in OCA1B allowing some accumulation of melanin pigment production throughout life.
    [Show full text]
  • Chediak‑Higashi Syndrome in Three Indian Siblings
    Case Report Silvery Hair with Speckled Dyspigmentation: Chediak‑Higashi Access this article online Website: Syndrome in Three Indian Siblings www.ijtrichology.com Chekuri Raghuveer, Sambasiviah Chidambara Murthy, DOI: Mallur N Mithuna, Tamraparni Suresh 10.4103/0974-7753.167462 Quick Response Code: Department of Dermatology and Venereology, Vijayanagara Institute of Medical Sciences, Bellary, Karnataka, India ABSTRACT Silvery hair is a common feature of Chediak-Higashi syndrome (CHS), Griscelli syndrome, and Elejalde syndrome. CHS is a rare autosomal recessive disorder characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leukocytes and other granule containing cells. A 6-year-old girl had recurrent Address for correspondence: respiratory infections, speckled hypo- and hyper-pigmentation over exposed areas, and Dr. Chekuri Raghuveer, silvery hair since early childhood. Clinical features, laboratory investigations, hair microscopy, Department of Dermatology and skin biopsy findings were consistent with CHS. Her younger sisters aged 4 and 2 years and Venereology, Vijayanagara had similar clinical, peripheral blood picture, and hair microscopy findings consistent with Institute of Medical Sciences, CHS. This case is reported for its rare occurrence in all the three siblings of the family, prominent pigmentary changes, and absent accelerated phase till date. Awareness, early Bellary ‑ 583 104, recognition, and management of the condition may prevent the preterm morbidity associated. Karnataka, India. E‑mail: c_raghuveer@ yahoo.com Key words: Partial albinism, primary immunodeficiency, silvery hair syndrome INTRODUCTION frontal scalp, eyebrows, eyelashes [Figure 1], and ocular pigmentary dilution was present. Other systems including hediak‑Higashi syndrome (CHS) is a rare, autosomal neurological findings were normal.
    [Show full text]
  • Disorders of Pigmentation — Part 2: Hypopigmentation
    How to Treat PULL-OUT SECTION www.australiandoctor.com.au COMPLETE HOW TO TREAT QUIZZES ONLINE www.australiandoctor.com.au/cpd to earn CPD or PDP points. INSIDE General approach Vitiligo Infective causes Other acquired disorders Genetic and congenital disorders THE AUTHORS DR DEEPANI RATHNAYAKE consultant dermatologist, Base Hospital Dambulla, Sri Lanka. Background DISORDERS of pigmentation are Disorders of PROFESSOR ROD SINCLAIR a common presentation in derma- director and head, dermatology, tology and general practice. Part 1 Epworth Hospital, Melbourne, of this update on disorders of pig- Victoria. mentation outlined the physiology of skin pigmentation and the path- pigmentation ological mechanisms that lead to these disorders. It then discussed the general approach to pigmentary dis- orders and focused on the diagnosis — Part 2: and management of hyperpigmen- tary disorders. Hypopigmentation, like hyper- pigmentation, can lead to signifi- cant psychosocial problems. It can Hypopigmentation even be a reason for social rejec- tion. This is especially pertinent in the cosmetic management of the This is the second of a two-part series on disorders of pigmentation. Part 2 covers hypopigmentary hypopigmented lesions that can be disorders in detail. significantly disfiguring on the face and other exposed skin. Acquired hypopigmentation may be associ- ated with an underlying systemic disorder that may be treatable. The search and treatment for underlying Copyright © 2014 conditions are just as important as Australian Doctor All rights reserved. No part of this the management of the presenting publication may be reproduced, cosmetic complaint. distributed, or transmitted in any This article discusses the general form or by any means without approach to hypopigmented skin the prior written permission of the publisher.
    [Show full text]
  • (12) Patent Application Publication (10) Pub. No.: US 2010/0210567 A1 Bevec (43) Pub
    US 2010O2.10567A1 (19) United States (12) Patent Application Publication (10) Pub. No.: US 2010/0210567 A1 Bevec (43) Pub. Date: Aug. 19, 2010 (54) USE OF ATUFTSINASATHERAPEUTIC Publication Classification AGENT (51) Int. Cl. A638/07 (2006.01) (76) Inventor: Dorian Bevec, Germering (DE) C07K 5/103 (2006.01) A6IP35/00 (2006.01) Correspondence Address: A6IPL/I6 (2006.01) WINSTEAD PC A6IP3L/20 (2006.01) i. 2O1 US (52) U.S. Cl. ........................................... 514/18: 530/330 9 (US) (57) ABSTRACT (21) Appl. No.: 12/677,311 The present invention is directed to the use of the peptide compound Thr-Lys-Pro-Arg-OH as a therapeutic agent for (22) PCT Filed: Sep. 9, 2008 the prophylaxis and/or treatment of cancer, autoimmune dis eases, fibrotic diseases, inflammatory diseases, neurodegen (86). PCT No.: PCT/EP2008/007470 erative diseases, infectious diseases, lung diseases, heart and vascular diseases and metabolic diseases. Moreover the S371 (c)(1), present invention relates to pharmaceutical compositions (2), (4) Date: Mar. 10, 2010 preferably inform of a lyophilisate or liquid buffersolution or artificial mother milk formulation or mother milk substitute (30) Foreign Application Priority Data containing the peptide Thr-Lys-Pro-Arg-OH optionally together with at least one pharmaceutically acceptable car Sep. 11, 2007 (EP) .................................. O7017754.8 rier, cryoprotectant, lyoprotectant, excipient and/or diluent. US 2010/0210567 A1 Aug. 19, 2010 USE OF ATUFTSNASATHERAPEUTIC ment of Hepatitis BVirus infection, diseases caused by Hepa AGENT titis B Virus infection, acute hepatitis, chronic hepatitis, full minant liver failure, liver cirrhosis, cancer associated with Hepatitis B Virus infection. 0001. The present invention is directed to the use of the Cancer, Tumors, Proliferative Diseases, Malignancies and peptide compound Thr-Lys-Pro-Arg-OH (Tuftsin) as a thera their Metastases peutic agent for the prophylaxis and/or treatment of cancer, 0008.
    [Show full text]
  • Griscelli Syndrome - a Case Case Report Report a One Year and Ten-Month-Old Child Was Referred to Us for Severe Pallor
    CASE REPORTS Griscelli Syndrome - A Case Case Report Report A one year and ten-month-old child was referred to us for severe pallor. Her chief complaints were fever (3 months off and on), Mamta Manglani abdominal distension (2 months), jaundice (1 Kaitav Adhvaryu month), and anasarca (15 days). There was a Bageshree Seth past history of jaundice and abdominal distension, 4 months prior to this episode, which resolved spontaneously. There was no Griscelli syndrome is a rare autosomal recessive disorder characterized by partial albinism with history of vomiting, urinary or bowel variable immunodeficiency. Silvery gray hair with complaints, or bleeding from any site. There large, clumped melanosomes on microscopy of hair was no history of tranfusions received in the shafts are diagnostic. The commonest complication past. There was a history of death of the first leading to mortality includes lymphohistiocytic female sibling at 6 months age with fever. This proliferation in various organs, including the brain. sibling, on enquiry, also had light coloured We present a child with classic clinical features and confirmatory findings of clumped melanosomes on hair. On examination, her vital parameters microscopy of hair shaft. were normal. She had significant pallor, silvery gray hair (Fig. 1), low set ears and Key words: Griscelli syndrome, Hemophago- insignificant lymphadenopathy. Abdomen cytosis, Lymhohistiocytic proli- feration. was distended, with the liver 6.5 cm palpable, firm and non-tender. The spleen was palpable 7 cm below left costal margin and was firm in Griscelli syndrome (Partial albinism consistency. The skin, iris and retina had with variable immunodeficiency) is an normal pigmentation.
    [Show full text]
  • Refractory Seizure in a Patient with Griscelli Syndrome: a Unique Case with One Mutation and a Novel Deletion
    Open Access Case Report DOI: 10.7759/cureus.14402 Refractory Seizure in a Patient With Griscelli Syndrome: A Unique Case With One Mutation and a Novel Deletion Juan Fernando Ortiz 1, 2 , Samir Ruxmohan 3 , Ivan Mateo Alzamora 4 , Amrapali Patel 5 , Ahmed Eissa- Garcés 1 1. Neurology, Universidad San Francisco de Quito, Quito, ECU 2. Neurology, Larkin Community Hospital, Miami, USA 3. Neurology, Larkin Community Hospital, Miami, Florida, USA 4. Medicine, Universidad San Francisco de Quito, Quito, ECU 5. Public Health, George Washington University, Washington, USA Corresponding author: Juan Fernando Ortiz, [email protected] Abstract Griscelli syndrome (GS) is a rare syndrome characterized by hypopigmentation, immunodeficiency, and neurological features. The genes Ras-related protein (RAB27A) and Myosin-Va (MYO5A) are involved in this condition's pathogenesis. We present a GS type 1 (GS1) case with developmental delay, hypotonia, and refractory seizures despite multiple medications, which included clobazam, cannabinol, zonisamide, and a ketogenic diet. Lacosamide and levetiracetam were added to the treatment regimen, which decreased the seizures' frequency from 10 per day to five per day. The patient had an MYO5A mutation and, remarkably, a deletion on 18p11.32p11.31. The deletion was previously reported in a patient with refractory seizures and developmental delay. We reviewed all cases of GS that presented with seizures. We reviewed other cases of GS and seizures described in the literature and explored possible seizure mechanisms in GS. Seizure in GS1 seems to be related directly to the MYO5A mutation. The neurological manifestations in GS2 seem to be caused indirectly by the accelerated phase of Hemophagocytic syndrome (HPS), which is characteristic of GS2.
    [Show full text]
  • What Is Albinism?
    INFORMATION ABOUT ALBINISM What Is Albinism? Albinism is an inherited genetic condition that reduces the amount of melanin pigment formed in the skin, hair and/ or eyes. Albinism occurs in all racial and ethnic groups throughout the world. In the U.S., approximately one in 18,000 to 20,000 people has some type of albinism. In other parts of the world, the occurrence can be as high as one in 3,000. Most children with albinism are born to parents whose hair and eye color are typical for their ethnic backgrounds. A common myth is that people with albinism have red eyes. Although lighting conditions can allow the blood vessels at the back of the eye to be seen, which can cause the eyes to look reddish or violet, most people with albinism have blue eyes, and some have hazel or brown eyes. There are Photo courtesy of Positive Exposure, Rick Guidotti different types of albinism and the amount vision in a variety of ways and are able to of pigment in the eyes varies. However, perform innumerable activities such as vision problems are associated with all reading, riding a bike or fishing. Some have types of albinism. sufficient vision to drive a car. Vision Considerations Dermatological Considerations People with albinism have vision problems Because most people with albinism that are not correctable with eyeglasses, have fair complexions, it’s important to and many have low vision. It’s the abnormal avoid sun damage to the skin and eyes development of the retina and abnormal by taking precautions such as wearing patterns of nerve connections between sunscreen or sunblock, hats, sunglasses and the eye and the brain that cause vision sun-protective clothing.
    [Show full text]
  • 1, Introduction Introduction
    1, Introduction Introduction History of research on human pigmentation although can be traced back to 2200 BC, the quest for understanding the mechanism of various aspects of pigmentation still continues. There is no doubt that the visual impressions of body form and color are important in the interactions within and between human communities. Further a number of diseases or malformations are known to be associated with various pigmentory disorders. Thus this area of research is of tremendous importance. In biology, a pigment is any material resulting in color of plant or animal cells, which is the result of selective color absorption. Many biological structures, such as skin, eyes, fur and hair contain pigments (such as melanin) in specialized cells called chromatophores. Study of pigmentation patterns provides a model system to study genetic as well as phenotypic variations as it provides a manifestation of the complex interplay between environmental cues, signal transduction pathways, several modifications at transcriptional- protein level. Thus pigment genes were "pioneers" for the exploration of mouse genetics leading to the identification of 127 different loci of which 63 different genes have been charaterised so far (Silvers 1979; Bennett and Lamourex, 2003; Getting 2005). A summary of the location and function of important genes in melanogenesis identified till date is presented in table 1. Introduction Mouse Coat Human Human Mutation/ Protein Function Colour Locus Chromosome Phenotype Melanosome proteins Oxidation of tyrosine,
    [Show full text]
  • Hermansky-Pudlak Syndrome and Oculocutaneous Albinism in Chinese Children with Pigmentation Defects and Easy Bruising Bradley Power1, Carlos R
    Power et al. Orphanet Journal of Rare Diseases (2019) 14:52 https://doi.org/10.1186/s13023-019-1023-7 RESEARCH Open Access Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising Bradley Power1, Carlos R. Ferreira1, Dong Chen2, Wadih M. Zein3, Kevin J. O’Brien4, Wendy J. Introne4, Joshi Stephen1, William A. Gahl1,4,5, Marjan Huizing1, May Christine V. Malicdan1,5, David R. Adams1,5 and Bernadette R. Gochuico1* Abstract Background: Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese children who presented with oculocutaneous albinism and easy bruisability. Results: The patients were evaluated at a single center; their ages ranged from 3 to 8 years. Whole exome or direct sequencing showed that two of the children had Hermansky-Pudlak syndrome (HPS) type-1 (HPS-1), one had HPS- 3, one had HPS-4, and four had non-syndromic oculocutaneous albinism associated with TYR variants (OCA1). Two frameshift variants in HPS1 (c.9delC and c.1477delA), one nonsense in HPS4 (c.416G > A), and one missense variant in TYR (c.1235C > T) were unreported. The child with HPS-4 is the first case with this subtype reported in the Chinese population. Hypopigmentation in patients with HPS was mild compared to that in OCA1 cases, who had severe pigment defects. Bruises, which may be more visible in patients with hypopigmentation, were found in all cases with either HPS or OCA1. Whole mount transmission electron microscopy demonstrated absent platelet dense granules in the HPS cases; up to 1.9 mean dense granules per platelet were found in those with OCA1.
    [Show full text]
  • Hair Shaft Examination: a Practical Tool to Diagnose Griscelli Syndrome
    Case Report Hair Shaft Examination: A Practical Tool to Diagnose Griscelli Syndrome Trinidad Montero-Vilchez 1 , Alexandra Remon-Love 2, Jesús Tercedor-Sánchez 1,* and Salvador Arias-Santiago 1 1 Department of Dermatology, Hospital Universitario Virgen de las Nieves, 18012 Granada, Spain; [email protected] (T.M.-V.); [email protected] (S.A.-S.) 2 Department of Pathology, Hospital Universitario Virgen de las Nieves, 18012 Granada, Spain; [email protected] * Correspondence: [email protected] Abstract: Griscelli syndrome (GS) is a rare disease that is characterized by silvery hair and fair skin. It is included in congenital grey hair syndromes, a rare group of autosomal recessive disorders characterized by silvery grey hair and severe multisystem disorders, such as immune system impair- ment, defects in immunological function, ocular and skeletal alterations, and nervous system defects. Herein, we report a rare case of GS type 1 and highlight the importance of a dermatological and hair examination to make an early diagnosis of these life-threatening diseases. Keywords: Griscelli syndrome; hair shaft; silvery Citation: Montero-Vilchez, T.; 1. Introduction Remon-Love, A.; Tercedor-Sánchez, J.; Griscelli syndrome (GS) is a rare skin disease characterized by a silvery hair and Arias-Santiago, S. Hair Shaft cutaneous hypopigmentation [1]. Three types of GS have been described. GS type 1 is char- Examination: A Practical Tool to acterized by hypomelanosis and primary neurological deficit [2]. GS type 2 manifests as Diagnose Griscelli Syndrome. hypomelanosis and immune deterioration [3]. GS type 3 only shows skin manifestations [4]. Dermatopathology 2021, 8, 49–53. This syndrome starts between infancy and childhood.
    [Show full text]
  • Haemophagocytic Lymphohistiocytosis with Partial Albinism-Griscelli Syndrome Type II
    Journal of Paediatrics and Neonatal Disorders Volume 3 | Issue 1 ISSN: 2456-5482 Case Report Open Access Haemophagocytic Lymphohistiocytosis with Partial Albinism-Griscelli Syndrome Type II Kariyappa P*1, Reddy SC1, Kondappa B1, and Kittagali PA2 1Department of Pediatrics, ESICMC & PGIMSR, Karnataka, India 2Sapthagiri Institute of Medical Sciences and Research Centre, Karnataka, India *Corresponding author: Kariyappa P, Professor, Department of Pediatrics, ESICMC & PGIMSR, Bangalore, Karnataka, India 560010, Tel: 9448710374, E-mail: [email protected] Citation: Kariyappa P, Reddy SC, Kondappa B, Kittagali PA (2018) Haemophagocytic Lymphohistiocytosis with Partial Albinism-Griscelli Syndrome Type II. J Paedatr Neonatal Dis 3(1): 103 Received Date: January 13, 2018 Accepted Date: April 24, 2018 Published Date: April 26, 2018 Abstract Hypopigmentation syndromes represent a readily distinguished group of diseases. Pigment dilution may involve skin, hair and iris, and is generally manifested at birth. Genetic defects of melanin biosynthesis are inherited as autosomal recessive. Griscelli syndrome is a rare autosomal recessive disorder characterised by partial albinism with or without neurological/immunological abnormalities. We report a nine year old child with Griscelli Syndrome type II with Hemophagocytic Lymphohistiocytosis. Keywords: Partial albinism; HLH Introduction Griscelli syndrome (GS) is a rare autosomal recessive disorder first described in 1978 by Claude Griscelli and Michel Prunieras, characterised by pigmentary dilution of the skin and hairs with variable neurological involvement and immunodeficiency [1]. It usually manifests in infancy commonly between four months to four years of age. Majority of case reports are from Iran and Turkey, there are only few reports from India. We report a case of Griscelli Syndrome type II (GS2), presenting for the first time at the age of 9 years.
    [Show full text]