DOCSLIB.ORG

Hyperpigmentary Disorders in Children

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Hyperpigmentary Disorders in Children Letters to the Editor released into the extracellular environment these stress proteins are very immunogenic, facilitating the presentation of other Hyperpigmentary disorders antigens to dendritic cells and eliciting an immune response.[2] in children: A hospital‑based Koebnerization of vitiligo following radiotherapy is rare and fewer than 15 reports have been described in literature including one study in a tertiary care from India.[3] Most of the reports describe depigmentation limited to areas of irradiation. There are only two reports of disseminated center vitiligo developing after radiotherapy. However, in both the cases, there was no prior history of vitiligo. Polat, et al.[4] reported a Sir, case of disseminated vitiligo developing after radiotherapy in Pigmentary disorders encompass a commonly encountered a case of nasopharyngeal carcinoma, with no prior history of group of dermatoses in the pediatric age group. Presence [5] vitiligo. Abood, et al. reported a case of melanoma, with no of hyperpigmented skin lesions in children, besides being prior history, developing generalized vitiligo after radiotherapy. an insignificant or isolated finding, may be indicative of more serious underlying systemic or genetic disorder. We carried The mechanism of development of disseminated depigmentation out a study in our dermatology out patient department (OPD) is not known. A “two‑hit” hypothesis has been proposed. over a period of 22 months (August 2007‑June 2009) with the Localized radiotherapy leads to increased oxidative stress thereby triggering the process of haptenation and resulting in objective of evaluating the pattern of hyperpigmentary disorders the formation of highly immunogenic neoantigens. This leads in children with an emphasis on whether the skin changes were to systemic autoimmune response to melanocytes resulting in early markers of any systemic or genetic disorder. sites of depigmentation distant to the irradiated field.[5] There were 58 children (32 boys, and 26 girls) in our study. Thus, we present a rare case of radiotherapy induced A total of 34392 children attended the Dermatology OPD during koebnerization and dissemination of vitiligo. Patients should be the study period. The frequency of hyperpigmentary disorders made aware of such a possibility and appropriately counseled. was 1.54 per 1000 children. The mean age of the children was 6.89 years and mean of age of onset was 3.89 years (birth to Swapnil A. Sanghavi, Atul M. Dongre, Uday S. Khopkar 13 years). Twenty six out of 58 (44.8%) children had onset at Department of Skin and VD, Seth G S Medical College and birth. The mean duration of the disorders was 3 years (range KEM Hospital, Parel, Mumbai, Maharashtra, India of 1 day to 14 years). Address for correspondence: Dr. Swapnil Sanghavi, Department of Skin and VD, Seth G S Medical College and The most common hyperpigmentary disorder in our KEM Hospital, Parel, Mumbai ‑ 400 012, India. study was café‑au‑lait macule (CALM) [Figure 1] seen E‑mail: [email protected] in 12 children (20.6%), followed by post‑inflammatory REFERENCES hyperpigmentation (9/58, 15.5%), pigmentary mosaicism (8/58, 13.8%) [Figures 2 and 3], congenital melanocytic 1. Njoo MD, Westerhof W. Vitiligo. Pathogenesis and treatment. Am J Clin Dermatol 2001;2:167‑81. 2. Weiss G, Shemer A, Trau H. The Koebner phenomenon: Review of the literature. J Eur Acad Dermatol Venereol 2002;16:241‑8. 3. Munshi A, Jain S, Budrukkar A, Jalali R, Sarin R. Radiotherapy‑induced depigmentation in a patient with breast cancer. Indian J Cancer 2007;44:157‑8. 4. Polat M, Yalçin B, Alli N. Vitiligo at the site of radiotherapy for nasopharyngeal carcinoma. Am J Clin Dermatol 2007;8:247‑9. 5. Daneshpazhooh M, Shokoohi A, Dadban A, Raafat J. The course of melanoma‑associated vitiligo: Report of a case. Melanoma Res 2006;16:371‑3. Access this article online Quick Response Code: Website: www.idoj.in DOI: 10.4103/2229-5178.110594 Figure 1: Café‑au‑lait macule over the abdomen 148 Indian Dermatology Online Journal- April-June 2013 - Volume 4 - Issue 2 Letters to the Editor nevus (7/58, 12%), lichen planus (5/58, 8.6%), Mongolian and hypertrichosis over the upper limb, shoulder, back spots (4/58, 6.8%) [Figure 4] and fixed drug eruption (FDE) and face. (b) Mucopolysaccharidoses – corneal haziness, (3/58, 5.2%) [Figure 5]. Two (3.4%) children each had urticaria developmental delay, mild left ventricular hypertrophy, pigmentosa [Figure 6] and Becker’s nevus [Figure 7]. One child wide‑open anterior fontanelle with enlarged calvarium and each (1.7%) had Chédiak‑Higashi Syndrome (CHS), discoid minimal widening on skull X‑ray, hepatosplenomegaly, lupus erythematosus, incontinentia pigmenti [Figure 8], hypertrichosis over the upper limb, shoulder, back and lentigines [Figure 9], lichen striatus, nevus of Ota, pityriasis face. (c) Centofacial lentiginosis [Figure 9] – hypertelorism. rubra pilaris and speckled lentiginous nevus. Table 1 (d) CHS – recurrent upper respiratory tract infection, recurrent shows the hyperpigmentary disorders (with systemic diarrhoea. (e) Tuberous sclerosis complex – seizures. associations) noted in our study. Chest and lower limb (f) McCune‑Albright syndrome – short stature. (g) Incontinentia were the most commonly affected sites (16.2%), followed pigmenti – spastic diplegia. (h) One child with congenital by face (15.3%), upper limb (11.7%), back (9.9%), and melanocytic nevus had limb length discrepancy (length of left abdomen (8.1%). Parental consanguinity was present in leg 3 cm more than right leg), hypertrophy of thigh and lymphatic 19 (32.7%) cases (2nd consanguinity‑10, 3rd consanguinity‑9). malformation on Doppler study of affected limb. Delayed milestones were observed in three children. In our study, CALMs occurred in 7.2% of all children with all The following systemic features were noted in our patients: pigmentary disorders in the study and in 20.6% of children with (a) Hurler’s syndrome – corneal haziness, flattened nasal bridge, hyperpigmentary lesions. The frequency of CALM in Osburn, developmental delay, left atrial and left ventricular hypertrophy et al.[1] study was 2.8% among all the infants included in the study, with prolapsed aortic valve and mild to moderate mitral and 9.2% among infants with pigmented lesions. In a McLeean regurgitation, abdominal distension due to hepatosplenomegaly and Gallagher[2] study prevalence of CALM was more than 25% Table 1: Hyperpigmentary disorders noted in our study Hyperpigmentary No. of Associations/comments disorders children (%) Café au lait macule 12 (20.6) Isolated CALM‑4, atopic diathesis‑2, tuberous sclerosis complex‑1, McCune‑Albright syndrome‑1, nevus of Ota and nevus depigmentosus‑1, psoriasis/lichen sclerosus et atrophicus/congenital melanocytic nevus‑1 each Post‑inflammatory 9 (15.5) Secondary to tinea infections‑8, chronic bullous disease of childhood‑1 hyperpigmentation Pigmentary mosaicism 9 (15.5) Linear and whorled nevoid hypermelanosis‑3, segmental pigmentation‑3, linear nevoid hyperpigmentation‑2, unilateral pigmentation‑1 Congenital melanocytic 7 (12) Giant “bathing‑trunk” nevus (>20 cm)‑1, intermediate size‑4, small nevus (<1.5 cm)‑2 nevus Lichen planus 5 (8.6) Classical LP‑3, hypertrophic LP‑1 (with associated obesity, alopecia areata and acanthosis nigricans), lichen planus pigmentosus‑1 Mongolian spots 4 (6.8) Present since birth in all. Single lesions in boys,[2] multiple (>20) lesions both girls. One girl had mucopolysaccharidosis and other girl had Hurler syndrome. One boy had congenital melanocytic nevus Fixed drug eruption 3 (5.2) Mean duration was 3 years. Multiple lesions were seen in 2 children and single lesion in 1 Becker’s nevus 2 (3.4) Both were 14 years of age. Appeared at 12 years of age in one and at birth in the other. No other abnormality in either Urticaria pigmentosa 2 (3.4) Both were girls. Onset–birth and 2 years. No systemic involvement except raised alkaline phosphatase in both Chediak‑higashi syndrome 1 (1.7) ‑ Discoid lupus erythematosus 1 (1.7) DLE on the face for 2 years Incontinentia pigmenti 1 (1.7) 1‑year‑old boy (46 XY). Lesions appeared at 6 months of age. Also had development delay, spastic diplegia and esotropia, delayed dentition and cone shaped teeth Centrofacial lentiginosis 1 (1.7) 11‑year‑old boy (onset‑9 years). Hairs–brown. Had hypertelorism. Echocardiography‑ normal. Similar lesions in the patient’s brother Lichen striatus 1 (1.7) ‑ Nevus of ota 1 (1.7) Onset‑6 years. Also had CALM and nevus depigmentosus on the thigh Pityriasis rubra pilaris 1 (1.7) ‑ Speckled lentiginous nevus 1 (1.7) ‑ *Some cases had two disorders, CALM: Café‑au‑lait macule, DLE: Discoid lupus erythematosus, LP: Lichen planus Indian Dermatology Online Journal - April-June 2013 - Volume 4 - Issue 2 149 Letters to the Editor Figure 2: Pigmentary mosaicism affecting one side of the face Figure 3: Pigmentary mosaicism affecting the trunk Figure 5: Fixed drug eruption lesions over the trunk in three ethnic groups. It was isolated finding in 10 children whereas two patients had syndromic associations (Tuberous Sclerosis Complex and McCune‑Albright Syndrome). Father Figure 4: Multiple Mongolian spots in Hurler’s syndrome baby of one child with 20 macules had neurofibromatosis. 150 Indian Dermatology Online Journal- April-June 2013 - Volume 4 - Issue 2 Letters to the Editor Figure 6: Pigmented lesions in urticaria pigmentosa demonstrating Darier’s sign Figure 7: Becker’s naevus in beard area of face Figure 8: Chinese letter pattern pigmentation over the abdomen in incontinentia pigmenti Post inflammatory hyperpigmentation (PIH) was a very common reason for patient visits. It commonly follows tinea infection, chronic bullous dermatosis of childhood, pyodermas, lichen planus, insect bite reactions, etc. In most of the cases, site and pattern of hyperpigmentation give you the clue to the antecedent dermatosis. Congenital melanocytic nevi (CMN) occurred in 12% (7 children) in our study. Most children (4/7) had intermediate sized nevi. Giant “bathing‑trunk” CMN was seen in one child, and small Figure 9: Lentigenes affecting the face CMN was seen in 2 children.
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]
  • Pigmented Contact Dermatitis and Chemical Depigmentation
    18_319_334* 05.11.2005 10:30 Uhr Seite 319 Chapter 18 Pigmented Contact Dermatitis 18 and Chemical Depigmentation Hideo Nakayama Contents ca, often occurs without showing any positive mani- 18.1 Hyperpigmentation Associated festations of dermatitis such as marked erythema, with Contact Dermatitis . 319 vesiculation, swelling, papules, rough skin or scaling. 18.1.1 Classification . 319 Therefore, patients may complain only of a pigmen- 18.1.2 Pigmented Contact Dermatitis . 320 tary disorder, even though the disease is entirely the 18.1.2.1 History and Causative Agents . 320 result of allergic contact dermatitis. Hyperpigmenta- 18.1.2.2 Differential Diagnosis . 323 tion caused by incontinentia pigmenti histologica 18.1.2.3 Prevention and Treatment . 323 has often been called a lichenoid reaction, since the 18.1.3 Pigmented Cosmetic Dermatitis . 324 presence of basal liquefaction degeneration, the ac- 18.1.3.1 Signs . 324 cumulation of melanin pigment, and the mononucle- 18.1.3.2 Causative Allergens . 325 ar cell infiltrate in the upper dermis are very similar 18.1.3.3 Treatment . 326 to the histopathological manifestations of lichen pla- 18.1.4 Purpuric Dermatitis . 328 nus. However, compared with typical lichen planus, 18.1.5 “Dirty Neck” of Atopic Eczema . 329 hyperkeratosis is usually milder, hypergranulosis 18.2 Depigmentation from Contact and saw-tooth-shape acanthosis are lacking, hyaline with Chemicals . 330 bodies are hardly seen, and the band-like massive in- 18.2.1 Mechanism of Leukoderma filtration with lymphocytes and histiocytes is lack- due to Chemicals . 330 ing. 18.2.2 Contact Leukoderma Caused Mainly by Contact Sensitization .
    [Show full text]
  • SKIN HYPERPIGMENTATION DISORDERS and USE of HERBAL EXTRACTS: a REVIEW Priyam Goswami* and H
    Current Trends in Pharmaceutical Research 2020 Vol 7 Issue 2 © Dibrugarh University www.dibru.ac.in/ctpr ISSN: 2319-4820 (Print) 2582-4783 (Online) Mini Review SKIN HYPERPIGMENTATION DISORDERS AND USE OF HERBAL EXTRACTS: A REVIEW Priyam Goswami* and H. K. Sharma Department of Pharmaceutical Sciences, Faculty of Science and Engineering, Dibrugarh University Abstract Background: Problems pertaining to the skin pigmentation is one of the major concerns that affect the quality of life of human beings especially women. The disturbances in the melanin production mainly results in skin pigmentation disorders. For centuries natural ingredients have been used in the treatment of skin hyperpigmentation disorders. Since synthetic cosmetic ingredients can have potential side effects, emphasis has been given on the herbal products, which are considered to be mild and biodegradable, exhibiting low toxicity. Objective: The objective of this review is to provide a brief understanding about the skin hyperpigmentation disorders and the use of various herbal extracts as a notable approach for its treatment. Methods: A narrative literature review was conducted with the extraction of information, which was analyzed from various databases viz. Google scholar, Science Direct, PubMed, Wiley Online Library etc., Results and Discussions: The preferences of the people for the use of herbal skin- lightening agents over the synthetic ones have gained wide spread popularity. Potentially active compounds that have been extracted from the plants have been identified which provide scope for its use a novel depigmenting agent. The improvement in the efficacy of the herbal extracts is mainly due to synergism, and hence this property yields great results when used in cosmetic formulations.
    [Show full text]
  • Overview of Skin Whitening Agents: Drugs and Cosmetic Products
    cosmetics Review Overview of Skin Whitening Agents: Drugs and Cosmetic Products Céline Couteau and Laurence Coiffard * Faculty of Pharmacy, Université de Nantes, Nantes Atlantique Universités, LPiC, MMS, EA2160, 9 rue Bias, Nantes F-44000, France; [email protected] * Correspondence: [email protected]; Tel.: +33-253484317 Academic Editor: Enzo Berardesca Received: 30 March 2016; Accepted: 13 July 2016; Published: 25 July 2016 Abstract: Depigmentation and skin lightening products, which have been in use for ages in Asian countries where skin whiteness is a major esthetic criterion, are now also highly valued by Western populations, who expose themselves excessively to the sun and develop skin spots as a consequence. After discussing the various possible mechanisms of depigmentation, the different molecules that can be used as well as the status of the products containing them will now be presented. Hydroquinone and derivatives thereof, retinoids, alpha- and beta-hydroxy acids, ascorbic acid, divalent ion chelators, kojic acid, azelaic acid, as well as diverse herbal extracts are described in terms of their efficacy and safety. Since a genuine effect (without toxic effects) is difficult to obtain, prevention by using sunscreen products is always preferable. Keywords: depigmenting agents; safety; efficacy 1. Introduction The allure of a pale complexion is nothing new and many doctors have been looking into this subject for some time, proposing diverse and varied recipes for eliminating all unsightly marks (freckles and liver spots were clearly targeted). Pliny the Elder (Naturalis Historia), Dioscoride (De Universa medicina), Castore Durante (Herbario nuove), and other authors from other time periods have addressed this issue.
    [Show full text]
  • The Stepwise Approach to the Treatment of Melasma
    HIGHLIGHTING SKIN OF COLOR The Stepwise Approach to the Treatment of Melasma Maritza I. Perez, MD Melasma is a symmetric progressive hyperpig- of the pigment within the skin and the reflection of mentation of facial skin that occurs in all races light determine the perception of color. Epidermal but has a predilection for darker skin pheno- pigment is usually light to dark brown; dermal pig- types. Melasma has been associated with hor- ment is gray-blue. On Wood light examination, pig- monal imbalances, sun damage, and genetic ment that resides within the epidermis is predisposition. Clinically, melasma can be accentuated, while dermal pigment is not enhanced. divided into centrofacial, malar, and mandibular Fortunately, epidermal melasma is the most common according to the pigment distribution on the form and also the most treatable.1 Dermal melasma, skin. On Wood light examination, the pigment however, is very difficult to treat because the pig- can be found within the epidermis, where it will ment is entrapped in the dermis in the melanin enhance, or within the dermis, where it will not granules within the melanophages. To date, very few enhance. Melasma can be classified as mild, treatments are effective for dermal melasma. moderate, or severe for evaluation and treatment Clinically, facial melasma is described in accor- purposes. In this article, we will discuss the dance with the anatomic location of the discol- objective evaluation of the patient with melasma, oration.2 The centrofacial area is the most as well as the treatments based on disease commonly affected area, as seen in two thirds of severity.
    [Show full text]
  • Bilateral Symmetrical Nasal Retinal Hypopigmentation Associated with Iris Heterochromia: a Case Report
    Journal of Surgery and Trauma 2019; 7(1):34-36. jsurgery.bums.ac.ir Bilateral symmetrical nasal retinal hypopigmentation associated with iris heterochromia: A case report Gholam Hossain Yaghoobi1 , Malihe Nikandish2 1Professor of Ophthalmology, Department of Ophthalmology, Valiasr Hospital, Birjand University of Medical Sciences, Birjand, Iran 2Assistant Professor, Department of Ophthalmology, Valiasr Hospital, Birjand University of Medical Sciences, Birjand, Iran Received: January 24, 2019 Revised: February 27, 2019 Accepted: February 27, 2019 Abstract We reported the case of a 9-year-old boy with a complete right blue iris and left brown iris. Other Ophthalmic examinations were normal except for the homonymous symmetrical pattern of nasal retinal hypopigmentation. The case had no systemic finding or positive family history. The present case was unique because the presentation of iris heterochromia did not follow Mendelian law and was not associated with any diseases or syndromes. Key words: Heterochromia iridis, Inheritance pattern, Retinal pigmentation Introduction Cases Iris color is one of the most obvious physical A 9-year-old boy with different iris colors since characteristics of a person that is determined by birth referred to our eye clinic (Figure 1). The right the concentration and distribution of melanin in eye was diffusely blue and the left one was brown. the iris. Iris heterochromia that is the difference in In ophthalmic examination, visual acuity without the coloration of the iris may be complete or correction in both eyes was 10/10. The pupils were partial (sectoral), as well as congenital or acquired reactive to light. He had a full range of ocular (1).
    [Show full text]
  • Localized Depigmentation on Genital Melanosis: a Clue for the Understanding of Vitiligo
    Correspondence 663 30 years: interestingly, this age group had the highest inci- had reticulated heterogeneous pigmentation of the penis dence rate ratio of all age groups analysed. which had been present since the age of 12 years. The lesion It would appear from the limited data presented that there was unique and had shown minimal enlargement during the may be evidence of comorbid disease, associated with meta- first 4 years. Six years after the onset of the hyperpigmenta- bolic syndrome, detected at an early age in young people with tion, he noticed the appearance of depigmented macules that psoriasis. Clearly more work needs to be done in this area. In were stable for more than 4 years (Fig.1a). An 18-year-old the interim this provides an opportunity to reinforce healthy man presented with testicular hyperpigmentation that progres- lifestyle choices in children in general but particularly those sively increased in size for 6 years. He had developed depig- with psoriasis and raises the question of whether we should mented macules strictly located at the site of the be monitoring for associated features of metabolic syndrome hyperpigmented lesions 3 years previously (Fig. 1b). A 54- in this age group. year-old man had a heterogeneous hyperpigmentation of the penis which had slowly enlarged over 3 years. Depigmented Department of Dermatology, Queen’s C.I. WOOTTON macules located on the previously hyperpigmented area had Medical Centre, Nottingham NG7 2UH, U.K. R. MURPHY developed in the last 8 months and a new hyperpigmented le- E-mail: [email protected] sion was noted from 6 months previously on the base of the penis (Fig.
    [Show full text]
  • Pityriasis Alba
    PEDIATRIC DERMATOLOGY Series Editor: Camila K. Janniger, MD Pityriasis Alba Richie L. Lin, MD; Camila K. Janniger, MD Pityriasis alba (PA) is a common benign condi- Epidemiology tion in children that has no definitive treatment. PA is common, affecting between 1.9% and 5.25% Its etiology and pathogenesis are still poorly of preadolescent children.5-9 In one series of patients understood. Recent studies have found direct with PA, 81% were 15 years or younger.2 In a differ- correlations between the incidence of PA and ent retrospective analysis of cases, 90% were aged 6 atopy, amount of sun exposure, lack of sun- to 12 years, and 10% were aged 13 to 16 years.10 screen use, and frequency of bathing. It is often There is no gender predisposition.2,5-7 PA is found in an incidental finding on physical examination all parts of the world.2,4-7 One series shows a because it is usually asymptomatic. Although markedly higher incidence among school children of treatment with emollients and mild topical corti- poorer socioeconomic background.7 costeroids may accelerate the repigmentation, they have limited efficacy. Without intervention, Etiology and Pathogenesis the lesions normally resolve within months to Many terms have been used to describe PA, includ- years. Extensive PA and pigmenting PA are ing erythema streptogenes, pityriasis streptogenes, and rarer variants. impetigo furfuracea.4 However, these names imply a Cutis. 2005;76:21-24. known cause. Bacterial, fungal, and parasitic infec- tions are more frequent among individuals with PA, ityriasis alba (PA) was first recognized more but no definitive associations have been found.3,10 than 80 years ago as a localized disorder of Nutritional deficiencies also are common.2,3,10 Some P hypopigmentation that was less marked than authors have suggested that xerosis and atopy are vitiligo.1 PA mostly affects the head and neck implicated in the pathogenesis of PA.2,4,10,11 The region of children.
    [Show full text]
  • Hypomelanosis of Ito: a Description, Not a Diagnosis
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector Hypomelanosis of Ito: A Description, Not a Diagnosis Virginia P. Sybert Childrens Hospital and Medical Center, University of Washington. Seattle, Washington, U.S.A. The term hypomelanosis ofIto has been used as a diag­ tients were mosaic for aneuploidy or unbalanced nosis for individuals with hypopigmentation or depig­ translocations, with two or more chromosomally dis­ mentation distributed along the lines of Blaschko. , tinctcell lines either within the same tissue or between Approxim,ately half of these patients have had neuro­ tissues. The more common alterations included mosaic logic, skeletal, and/or ocular abnormalities. In many, trisomy 18, diploidy/triploidy, mosaicism for sex determination that the lighter areas of skinwere hypo­ chromosome aneuploidy, and tetrasomy 12p. Karyo­ pigmented rather than the darker areas hyperpig­ typing of blood and,if necessary, skin, to detect mosai­ mented has been arbitrary. Evidence documenting cism is warranted in all patients presenting with swir­ single-gene transmission is unconvincing and recur­ ley pigmentary changes, either hyperpigmentation or rence risks appear to be negligible in most instances. hypopigmentation. The terms hypomelanosis of Ito Karyotyping of blood lymphocytes, skin fibroblasts, and incontinentia pigmenti achromians should be and/or keratinocytesoftts individuals reported inthe abandoned as they are neither diagnostic nor specific. literature revealed abnormal chromosome constitu­ Key words: ,ncontinentia pigmenti achromiam/ chromosomal tions in 60. Three patients were 46;KX/46;XY chi­ mosaicism/genetia. ] In"at Dermatol 103:141S-143S, meras, two were 46,xx/46,xx chimeras.
    [Show full text]
  • Pediatric Dermatology- Pigmented Lesions
    Pediatric Dermatology- Pigmented Lesions OPTI-West/Western University of Health Sciences- Silver Falls Dermatology Presenters: Bryce Lynn Desmond, DO; Ben Perry, DO Contributions from: Lauren Boudreaux, DO; Stephanie Howerter, DO; Collin Blattner, DO; Karsten Johnson, DO Disclosures • We have no financial or conflicts of interest to report Melanocyte Basic Science • Neural crest origin • Migrate to epidermis, dermis, leptomeninges, retina, choroid, iris, mucous membrane epithelium, inner ear, cochlea, vestibular system • Embryology • First appearance at the end of the 1st trimester • Able to synthesize melanin at the beginning of the 2nd trimester • Ratio of melanocytes to basal cells is 1:10 in skin and 1:4 in hair • Equal numbers of melanocytes across different races • Type, number, size, dispersion, and degree of melanization of the melanosomes determines pigmentation Nevus of Ota • A.k.a. Nevus Fuscocoeruleus Ophthalmomaxillaris • Onset at birth (50-60%) or 2nd decade • Larger than mongolian spot, does not typically regress spontaneously • Often first 2 branches of trigeminal nerve • Other involved sites include ipsilateral sclera (~66%), tympanum (55%), nasal mucosa (30%). • ~50 cases of melanoma reported • Reported rates of malignant transformation, 0.5%-25% in Asian populations • Ocular melanoma of choroid, orbit, chiasma, meninges have been observed in patients with clinical ocular hyperpigmentation. • Acquired variation seen in primarily Chinese or Japanese adults is called Hori’s nevus • Tx: Q-switched ruby, alexandrite, and
    [Show full text]
  • Review Skin Changes Are One of the Earliest Signs of Venous a R T I C L E Hypertension
    p-p - ABSTRACT Review Skin changes are one of the earliest signs of venous A R T I C L E hypertension. Some of these changes such as venous eczema are common and easily identified whereas DERMATOLOGICAL other changes such as acroangiodrmatitis are less common and more difficult to diagnose. Other vein MANIFESTATIONS OF VENOUS related and vascular disorders can also present with specific skin signs. Correct identification of these DISEASE: PART I skin changes can aid in making the right diagnosis and an appropriate plan of management. Given KUROSH PARSI, the significant overlap between phlebology and Departments of Dermatology, St. Vincent’s Hospital and dermatology, it is essential for phlebologists to be Sydney Children’s Hospital familiar with skin manifestations of venous disease. Sydney Skin & Vein Clinic, This paper is the first installment in a series of 3 Bondi Junction, NSW, Australia and discusses the dermatological manifestations of venous insufficiency as well as other forms of vascular ectasias that may present in a similar Introduction fashion to venous incompetence. atients with venous disease often exhibit dermatological Pchanges. Sometimes these skin changes are the only clue to an appropriate list of differential diagnoses. Venous ulceration. Less common manifestations include pigmented insufficiency is the most common venous disease which purpuric dermatoses, and acroangiodermatitis. Superficial presents with a range of skin changes. Most people are thrombophlebitis (STP) can also occur in association with familiar with venous eczema, lipodermatosclerosis and venous incompetence but will be discussed in the second venous ulcers as manifestations of long-term venous instalment of this paper (Figure 2).
    [Show full text]
  • Piebaldism and Neurofibromatosis Type
    erimenta xp l D E e r & m l a a t c o i l n o i Journal of Clinical & Experimental Alembo, J Clin Exp Dermatol Res 2013, 4:3 l g y C f R DOI: 10.4172/2155-9554.1000179 o e l ISSN: 2155-9554 s a e n a r r u c o h J Dermatology Research Case Report Open Access Piebaldism and Neurofibromatosis type -1: Family Report Familial Case of Piebaldism with Regression of the Depigmentation over the Trunk Digafe Alembo* Chief Dermato-Venerologist, Department of Dermatology, ALERT hospital, Ethopia Abstract Piebaldism is a rare disorder present at birth and inherited as an autosomal dominant trait. It results from a mutation in the c-kit proto-oncogene and is associated with a defect in the migration and differentiation of melanoblasts from the neural crest. Clinical manifestations and phenotypic severity strongly correlates with the site of mutation within the KIT gene. The white hair and patches of such patients are completely formed at birth and do not usually progress or regress thereafter. Here I report a family (one year and seven months old daughter, nine year old boy and their father) with piebaldism associated with clinical criteria for Neurofibromatosis type -1. There are rare reports of piebaldism associated with neurofibromatosis -1. I also report a case of piebaldism with regression of the depigmentation over the trunk. Regression of the white foreloke was rarely reported but regression over the depigmentation over the trunk has not been reported. Case 1 A 36 years old man presented to dermatology department, ALERT hospital for a consultation of his skin problem.
    [Show full text]