DOCSLIB.ORG

Preceded by Multiple Diagnostic. X-Rays One Year Prior to The

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Preceded by Multiple Diagnostic. X-Rays One Year Prior to The A Malformation Complex of Ectrodactyly, Clefting and Hypomelanosis of Ito (Incontinentia Pigmenti Achromians) RAY E. STEWART, D.M.D., M.S. STEVEN FUNDERBURK, M.D. YOSHIO SETOGUCHI, M.D. Torrance, California 90509 A case is described which, at birth, had a bizarre pattern of Aypopigmentation (incontinentia pigment achromians), ectrodactyly involving all four extremities, and unilateral cleft lip and palate. This patient does not have the seizures or other neurological and developmental anomalies previously described as associated with Aypopigmentation of Ito. This condition is also clearly different from the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC). We have recently observed four-month-old tone. The child has developed normally, Mexican-American female infant with an in- reaching all of her age-appropriate milestones teresting constellation of anomalies, including with no evidence of neurological or other _ unilateral complete clefts of the lip and pal- problems. The Denver Developmental Scales ate, ectrodactyly of the hands and feet, and yielded an intelligence quotient of 100 at 14 generalized abnormalities in skin pigmenta- months of age. tion. The association of ectodermal changes, Examination of the head and neck revealed ectrodactyly, and oralfacial clefting has been unilateral complete cleft of the lip and palate. well documented in the EEC syndrome (ec- There was mild hypoplasia of the right exter- trodactyly, ectodermal dysplasia, and clefting nal ear (Figure 1). syndrome). However, this patient clearly does Examination of the skin revealed a peculiar not fall into this classification. generalized pattern of hypopigmentation over the entire body, including the head, neck, and Clinical findings face. On the dorsum, the pigmentation as- The child was the product of a full-term, sumed a swirling pattern. There was midline uncomplicated pregnancy of a 33-year-old demarcation of the pigment distribution an- gravida-4, para-4, abortion-0, mother and a teriorly, and there was a linear distribution 34-year-old father. The older siblings are nor- on the arms and legs. Several of the hypopig- mal. There is no family history of congenital mented areas were mildly desquamative. Bi- malformations, and there is no history of con- opsy of these areas showed no histopatholog- sanguinity. There was no known exposure to ical changes. There was a pink discoloration radiation, drugs, or other teratogens at the in the hypopigmented patches of skin over the time of conception or during the pregnancy. left shoulder, on both buttocks, and in both However, the mother had gallstone surgery axillae. There were several small heman- preceded by multiple diagnostic. x-rays one glomas located in the midback and glutial year prior to the pregnancy. _ reglons The affected areas of skin were nor- Birth weight was 8 lbs., 11 oz. The infant mal in texture. Sensation was intact, and was vigorous and alert and had good muscle sweating was normal. The hair and nails were of normal quality and quantity. The eyes were normal and with- Dr. Stewart is affiliated with UCLA/Harbor General out obstruction or defects of the lacrimal Hospital, Torrance, California. ducts. There were "lobster-claw'" deformities Drs. Funderburk and Setoguchi are affiliated W1th the Departments of Pediatrics and Psychiatry UCLA School of both hands and absence of the third digit of Medicine, Los Angeles. bilaterally. There was a bifid thumb on the 358 Stewart, et al., ECTRODACTYLY, CLEFTING AND HYPOMELANOSIS 359 phalanges of the third ray and clinodactyly of the first and fifth rays with no evidence of bony fusion. The left foot showed syndactyly of the pha- langes of the third and fourth toes with an absence of ossification of the middle phalanx of the fourth toe. Clinodactyly of the fifth toe was noted with absence of ossification of the distal and middle phalanges of the fifth toe. There was no evidence of bony fusion (Figure 4). The right foot had supernumerary rays be- tween the second and third digits with syn- dactyly of toes two, three, and four. There was shortening of the third metatarsal and a lack of ossification of the middle phalanx of the fifth toe. Again, there was no evidence of bony fusion. Discussion The clinical findings described in this pa- tient closely resemble a condition described by Ito (1952) which has been variously termed FIGURE 1. Patient at age 8 weeks showing unilat- incontinentia pigmenti achromians, systema- eral complete cleft of lip and palate, hypopigmentation on trunk, arms and face, and ectrodactyly. tized achromic nevus (Coupe, 1975; Cram, 1974) and hypomelanosis of Ito (Jelinek, right, and a rudimentary accessory index fin- 1973). In its classic description, this condition ger on the left. In addition, there was wide is said to consist of macular hypopigmented spacing between the second and third toes on whorls, streaks, and patches in a bilateral or the right foot and between the third and unilateral distribution affecting almost any fourth toes on the left foot. Syndactyly was portion of the body surface. Because of the present between the third and fourth toes on differences in the natural history of the cuta- the right side and between the second and neous defect, the histologic features, and the third toes on the left side (Figure 2). In addi- pattern of inheritance, this condition has been tion, there were deep horizontal plantar regarded as distinct and separate from incon- grooves in the first interdigital spaces bilat- erally. The remainder of the physical examination was unremarkable. Trypsin-Giemsa banded chromosome anal- ysis done on peripheral blood lymphocytes was normal. Radiographic findings Anterior posterior radiographs were done of the hands and feet. The right hand ex- hibited an absence of the third ray and ossi- fication of the middle phalanx of the fifth digit. There was clinodactyly of the second and fifth rays and nonossification of the distal phalanx of the second ray. Three phalanges were noted in the thumb. There was no evi- FIGURE 2. Feet showing 3-4 syndactyly on right dence of bony fusion. (See Figure 3.) and 2-3 syndactyly on left. Hypopigmentation is also The left hand exhibited an absence of the apparent. 360 Cleft Palate Journal, October 1979, Vol. 16 No. 4 FIGURE 3. Radiographs of hands. tinentia pigmenti which it resembles but as a and delayed development, have been the most negative image (Jelinek, et al., 1973). consequential of these defects, but ocular and Patients with the condition as described by musculoskeletal anomalies also have occurred Ito (1952) either have skin lesions at birth or with significant frequency. develop lesions early in life without a preced- In a report of eight patients by Schwartz et ing bullous or verrucous stage. The lesions are al. (1977), there was a particularly high inci- diagnostic clinically because of the extensive dence of nonspecific abnormalities. Six of the areas of bizarre, whorled, marbled, and eight patients had sufficient developmental streaked hypopigmentation which appear to delay to warrant placement in special educa- be unique to this disorder. Unfortunately, tion classes. Four patients had seizure disor- there are no specific histologic changes. Var- ders of varying degrees of severity. In three, ious reports on sections from hypopigmented onset of seizures occurred prior to the third lesions show only decreased numbers of mel- year of life. All four patients with seizures had anocytes, reduction of pigment production in significant scoliosis, and in three, prominent DOPA preparations, and incomplete melani- asymmetry of the lower limbs was noted. zation of melanosomes on electron microscopy Three of the eight patients had ophthalmo- (Stoebner, 1970). Compared to normally pig- logic abnormalities, which included isolated mented skin, melanosomes in keratinocytes iridal heterochromia, a mild alternating eso- from hypopigmented areas are fewer in num- tropia and myopia, microphthalmia, hyper- ber and are packaged individually (Cram, telorism, and nystagmus. Strabismus has been 1974). frequently reported along with other anoma- Reports of this condition in more than 30 lies, most significantly corneal opacity and affected individuals of various ethnic origins choroidal atrophy (Jelinek, 1973). reveal that it is accompanied by associated Abnormalities of teeth, hair, and nails have abnormalities of varying structures and sever- been reported in incontinentia pigmenti ach- ity in 50% of the cases. Central nervous system romians, but these are apparently not present dysfunction, particularly seizure disorders in the majority of cases. Stewart, et al., ECTRODACTYLY, CLEFTING AND HYPOMELANOSIS 361 It is essential to differentiate and distin- scribed in the absence of the more classic guish incontinentia pigmenti achromian from hyperpigmented lesions. Associated anomalies incontinentia pigmenti (Bloch-Sulzberger) are frequent, most commonly involving the with which it is frequently compared and central nervous system, eyes, musculoskeletal often confused. Although similarities do exist system, hair, and teeth. between the two conditions, there are several important differences. Pathogenesis Incontinentia pigmenti is an X-linked dom- The role of genetics in the pathogenesis of inant trait which is observed most frequently hypopigmentation of Ito is not clear (Ito, in females. The condition is thought to be 1952). The majority of reported cases are lethal for most affected males (Gordon, 1970). sporadic. However, a few instances of
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]
  • Uniform Faint Reticulate Pigment Network - a Dermoscopic Hallmark of Nevus Depigmentosus
    Our Dermatology Online Letter to the Editor UUniformniform ffaintaint rreticulateeticulate ppigmentigment nnetworketwork - A ddermoscopicermoscopic hhallmarkallmark ooff nnevusevus ddepigmentosusepigmentosus Surit Malakar1, Samipa Samir Mukherjee2,3, Subrata Malakar3 11st Year Post graduate, Department of Dermatology, SUM Hospital Bhubaneshwar, India, 2Department of Dermatology, Cloud nine Hospital, Bangalore, India, 3Department of Dermatology, Rita Skin Foundation, Kolkata, India Corresponding author: Dr. Samipa Samir Mukherjee, E-mail: [email protected] Sir, ND is a form of cutaneous mosaicism with functionally defective melanocytes and abnormal melanosomes. Nevus depigmentosus (ND) is a localized Histopathologic examination shows normal to hypopigmentation which most of the time is congenital decreased number of melanocytes with S-100 stain and and not uncommonly a diagnostic challenge. ND lesions less reactivity with 3,4-dihydroxyphenylalanine reaction are sometimes difficult to differentiate from other and no melanin incontinence [2]. Electron microscopic hypopigmented lesions like vitiligo, ash leaf macules and findings show stubby dendrites of melanocytes nevus anemicus. Among these naevus depigmentosus containing autophagosomes with aggregates of poses maximum difficulty in differentiating from ash melanosomes. leaf macules because of clinical as well as histological similarities [1]. Although the evolution of newer diagnostic For ease of understanding the pigmentary network techniques like dermoscopy has obviated the
    [Show full text]
  • Skin Pigmentary Variants in Rana Nigromaculata
    Original Article J. Clin. Biochem. Nutr., 38, 195–203, May 2006 Skin Pigmentary Variants in Rana Nigromaculata Ichiro Tazawa, Hitoshi Okumoto, and Akihiko Kashiwagi* Division of Embryology and Genetics, Institute for Amphibian Biology, Graduate School of Science, Hiroshima University, 1-3-1 Kagamiyama, Higashihiroshima, Hiroshima 739-8526, Japan Received 22 December, 2005; Accepted 26 January, 2006 Summary Because there is mounting evidence to suggest that oxidative stress is involved in the pathophysiology of albinism, albino amphibians are useful tools for studies on imbalances in the oxidant-antioxidant system. In the course of maintaining albino mutant frog strains it was found that crosses between albino males and heterozygous females of Rana nigromaculata sometimes produce offspring displaying pigmentary mosaicism. After hatching hypopigmented portions appear on the left or right side of the body, and this is accompanied by such abnormalities as poor viability, asymmetrical curvature of the body toward the hypopigmented side, and limb deformity. Histological examination of mosaics showed the cells of various tissues (except kidney) to be smaller on the hypopigmented side and larger on the pigmented side compared to corresponding cells in wild type offspring. Cytogenetic analysis of cultured skin cells revealed that wild type and albino individuals were diploidal with 26 chromosomes, the same as normal R. nigromaculata. In mosaics on the other hand, cells of hypopigmented portions were almost exclusively haploidal with 13 chromosomes, while pigmented portions were a mixture of roughly 75% triploidal, 39 chromosome cells and roughly 25% haploidal, 13 chromosome cells. Key Words: albino, unilateral pigmentation, pigmentary mosaicism, chromosomal mosaicism, mixoploidy, haploid, triploid, Rana one means of assessing the involvement of reactive oxygen Introduction species (ROS) in biological processes such as aging.
    [Show full text]
  • Colocalized Nevus Depigmentosus and Lentigines Prashansa Jaiswal, Sundeep Chowdhry, Paschal D’ Souza
    2XU'HUPDWRORJ\2QOLQH Case Report Colocalized nevus depigmentosus and lentigines Prashansa Jaiswal, Sundeep Chowdhry, Paschal D’ Souza Department of Dermatology, Venereology and Leprology, Employees’ State Insurance Corporation Post Graduate Institute of Medical Sciences & Research, Basaidarapur, New Delhi - 110 015, India Corresponding author: Assist. Prof. Sundeep Chowdhry, E-mail: [email protected] ABSTRACT Nevus depigmentosus (ND)is classically defined as a congenital nonprogressive hypopigmented macule, stable in size and distribution. A 17 year girl presented with hypopigmented patch with indented borders, present on the right side of face and neck since 3 years of age. Later on at the age of 5, numerous hyperpigmented punctiform spots appeared exclusively on the hyperpigmented area. On sun exposure, the hypopigmented area neither reddened nor burnt. On diascopy the margin of the hypopigmented lesion remained delineated. The dermoscopic examination showed 1-4 millimeters sized hyperpigmented lesions with a barely visible pseudonet, leading to the final diagnosis of colocalized nevus depigmentosus and lentigines. Key words: Nevus; Hypopigmentation; Reverse; Mutation; Pigmentation INTRODUCTION 25 X 8 centimeters was present at the angle of mouth on right side, further extending to lateral side of right ear, Nevus depigmentosus (ND)is a rare, congenital, right angle of jaw, lateral right side of neck to about 6 stable hypomelanosis first described by Lesser in centimeters below the clavicle. It was irregular in shape 1884 [1]. The lesions usually present as dermatomal with serrated irregular margins. The surface was smooth or quasidermatomal macules commonly on the trunk, and had multiple oval dark brown coloured macules of lower abdomen, or proximal extremities. They are off- 1 to 4 mm in size (Fig.
    [Show full text]
  • Phacomatosis Spilorosea Versus Phacomatosis Melanorosea
    Acta Dermatovenerologica 2021;30:27-30 Acta Dermatovenerol APA Alpina, Pannonica et Adriatica doi: 10.15570/actaapa.2021.6 Phacomatosis spilorosea versus phacomatosis melanorosea: a critical reappraisal of the worldwide literature with updated classification of phacomatosis pigmentovascularis Daniele Torchia1 ✉ 1Department of Dermatology, James Paget University Hospital, Gorleston-on-Sea, United Kingdom. Abstract Introduction: Phacomatosis pigmentovascularis is a term encompassing a group of disorders characterized by the coexistence of a segmental pigmented nevus of melanocytic origin and segmental capillary nevus. Over the past decades, confusion over the names and definitions of phacomatosis spilorosea, phacomatosis melanorosea, and their defining nevi, as well as of unclassifi- able phacomatosis pigmentovascularis cases, has led to several misplaced diagnoses in published cases. Methods: A systematic and critical review of the worldwide literature on phacomatosis spilorosea and phacomatosis melanorosea was carried out. Results: This study yielded 18 definite instances of phacomatosis spilorosea and 14 of phacomatosis melanorosea, with one and six previously unrecognized cases, respectively. Conclusions: Phacomatosis spilorosea predominantly involves the musculoskeletal system and can be complicated by neuro- logical manifestations. Phacomatosis melanorosea is sometimes associated with ancillary cutaneous lesions, displays a relevant association with vascular malformations of the brain, and in general appears to be a less severe syndrome.
    [Show full text]
  • Nevus Depigmentosus
    Journal of Dermatology & Cosmetology Commentary Open Access Nevus depigmentosus Introduction Volume 1 Issue 1 - 2017 Nevus Depigmentosus (nevus achromicus) is a rare congenital pigmentary disorder. It is a depigmentation problem in skin which can Hayk S Arakelyan be easily differentiated from vitiligo. Nevus anemic us is a congenital General Medicine and Clinical Research, Armenian University of vascular anomaly that presents clinically as a hypo pigmented macule Integrative Medicine, Armenia or patch. Correspondence: Hayk S Arakelyan, Doctor of Medical The pathogenesis of ND is not fully understood. It is believed Sciences, PhD, Senior Expert of Interactive Clinical to be due to a functional defect of melanocytes with morphological Pharmacology, Drug Safety, Treatment Tactics, General Medicine abnormalities of melanosomes. It is also said to be a form of cutaneous and Clinical Research. Armenian University of Integrative mosaicism wherein an altered clone of melanocyte have a decreased Medicine, Armenia, Tel (37491)-40-94-97, Email [email protected] ability to synthesize melanin and transport to keratinocytes. Received: March 28, 2017 | Published: April 04, 2017 It can be found anywhere on the body but commonly it is seen on the trunk, neck, face, and proximal part of the extremities. Clinically, three types have been described: Localized Segmental, and Linear or Whorled. Localized variant is the most common compared to the others. It is a single well circumscribed lesion with serrated Acknowledgements borders. Segmental variant is larger in size and shape and also referred to as “segmental de-pigmentation disorder” with a sharp midline None. demarcation. Linear/whorled/systematized type may be extensive and have cutaneous lesions that overlap with HOI.( hypomelanosis of Ito ) Conflict of interest The systematized variant is very rare and may have extra cutaneous The author declares no conflict of interest.
    [Show full text]
  • Vitiligo: to Biopsy Or Not to Biopsy?
    COMMENTARY Vitiligo: To Biopsy or Not To Biopsy? María Eugenia Mazzei Weiss, MD he histopathologic diagnosis of vitiligo is classi- these histologic findings, it is common to find spongiosis, cally understood as the absence of melanocytes mononuclear superficial perivascular inflammatory infil- T and melanin in the skin biopsy.1 It is difficult for a trate, and melanophages in biopsies of vitiligo.3 pathologist to establish the absolute absence of melano- Given that ensuring the absence of melanocytes is cytes and melanin in a skin biopsy. Therefore, we need to central to diagnosis and melanocytes can be difficult to take into consideration many variables when we face the identify or differentiate from repositioned Langerhans possibility to biopsy a vitiligo lesion. cells in the basal layercopy with hematoxylin and eosin stain, The basis of the clinical diagnosis of vitiligo is the immunohistochemical techniques must be performed appearance of achromic lesions in periorificial and acral every time we are dealing with vitiligo biopsies. Although areas; however, sometimes it is difficult to differentiate there are no studies comparing the diagnostic value of between an achromic or hypochromic lesion. Although the different immunohistochemical techniques in vitiligo, Wood light is of great help in these circumstances, it still dihydroxyphenylalaninenot (DOPA) seems to be a good can be difficult to make the diagnosis with certainty. option, as it will only mark active melanocytes. Human In other cases, the lesions do not present a classic melanoma black 45 (HMB-45), anti-TYRP1 (Mel-5), and distribution of vitiligo, and other differential diagnoses antimelanoma gp 100 antibody (NKI/beteb) also have are considered.
    [Show full text]
  • Pigmented Nevi Within Segmental Nevus Depigmentosus
    Journal of Pakistan Association of Dermatologists . 2015; 25 (1) :76-77. Short Communication General physical examination and systemic Pigmented nevi within examinations were unremarkable. Cutaneous segmental nevus examination revealed a hypopigmented patch measuring about 25cm x 15cm situated over the depigmentosus - a right side of the lateral aspect of the neck rare case extending to the right shoulder and right side of the upper back, along the C7-C8 dermatomes. Sir, nevus is the Latin word for ‘maternal There were multiple, brownish, round macules impression’ or ‘birthmark’ and indicates a measuring 5 to 10 mm interspersed within the circumscribed, non-neoplastic skin or mucosal hypopigmented macule. The hyperpigmented lesion, usually present at or soon after birth, and macules are confined only within the fixed. Many, possibly all, nevi represent clones hypopigmented macule and it was not present of genetically altered cells arising from elsewhere ( Figure 1 ). The hair in the mosaicism. Some of the nevi are commonly hypopigmented patch was not depigmented. encountered like, acquired melanocytic nevi, Wood’s lamp examination revealed an off-white Becker’s nevi and verrucous epidermal nevi. accentuation, in contrast to the chalky-white Some of them are extremely rare like, apocrine accentuation noted in vitiligo. Routine nevi, proteoglycan nevi, nevoid ichthyosis hematological and biochemical parameters were hystrix, kissing nevus and pigmented nevi within normal limits. Histopathological within nevus depigmentosus. Nevus spilus is examination of hypopigmented macule revealed comprised of a flat, macular component, subtly normal melanocyte number with decreased darker shade than the surrounding skin, melanin ( Figure 2 ). Histopathological resembling a café-au-lait spot.
    [Show full text]
  • Pigmentary Mosaicism: a Review of Original Literature And
    Kromann et al. Orphanet Journal of Rare Diseases (2018) 13:39 https://doi.org/10.1186/s13023-018-0778-6 REVIEW Open Access Pigmentary mosaicism: a review of original literature and recommendations for future handling Anna Boye Kromann1, Lilian Bomme Ousager2, Inas Kamal Mohammad Ali1, Nurcan Aydemir1 and Anette Bygum1* Abstract Background: Pigmentary mosaicism is a term that describes varied patterns of pigmentation in the skin caused by genetic heterogeneity of the skin cells. In a substantial number of cases, pigmentary mosaicism is observed alongside extracutaneous abnormalities typically involving the central nervous system and the musculoskeletal system. We have compiled information on previous cases of pigmentary mosaicism aiming to optimize the handling of patients with this condition. Our study is based on a database search in PubMed containing papers written in English, published between January 1985 and April 2017. The search yielded 174 relevant and original articles, detailing a total number of 651 patients. Results: Forty-three percent of the patients exhibited hyperpigmentation, 50% exhibited hypopigmentation, and 7% exhibited a combination of hyperpigmentation and hypopigmentation. Fifty-six percent exhibited extracutaneous manifestations. The presence of extracutaneous manifestations in each subgroup varied: 32% in patients with hyperpigmentation, 73% in patients with hypopigmentation, and 83% in patients with combined hyperpigmentation and hypopigmentation. Cytogenetic analyses were performed in 40% of the patients: peripheral blood lymphocytes were analysed in 48%, skin fibroblasts in 5%, and both analyses were performed in 40%. In the remaining 7% the analysed cell type was not specified. Forty-two percent of the tested patients exhibited an abnormal karyotype; 84% of those presented a mosaic state and 16% presented a non-mosaic structural or numerical abnormality.
    [Show full text]
  • Partial Unilateral Lentiginoses
    igmentar f P y D l o i a so n r r d u e de Lima Grynszpan et al., Pigmentary Disorders 2015, 2:4 r o J s Journal of Pigmentary Disorders DOI: 10.4172/2376-0427.1000175 ISSN: 2376-0427 Case Report Open Access Partial Unilateral Lentiginoses Rachel de Lima Grynszpan1, Joao Paulo Niemeyer Corbellini2, Beatriz Maria Gaiser1 and Marcia Ramos-e-Silva3* 1Dermatologist and Former Post-Graduation Student – Sector of Dermatology and Post-Graduation Course, HUCFF-UFRJ and School of Medicine, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil 2Dermatologist and Supervisor of the General Dermatology and Photodermatology Out-Patient Clinics – Sector of Dermatology and Post-Graduation Course, HUCFF- UFRJ and School of Medicine, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil 3Associate Professor and Chair – Sector of Dermatology and Post-Graduation Course, HUCFF-UFRJ, and School of Medicine, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil Abstract The authors present a case of a rare pigmentation disorder, partial unilateral lentiginosis (PUL), which is characterized by multiple lentigines located in only one side of the body with histopathology of lentigine. Keywords: Lentigines; Partial unilateral lentiginosis; Pigmentation At dermatologic examination, small brownish macules were observed on the back of the right hand, right cervical region, right Introduction upper chest, right lower lip and right forehead up to the medial line, Partial unilateral lentiginosis (PUL) is a rare pigmentation disorder characterized by multiple lentigines located in only one side of the body, which histopathologically show typical finding of lentigine [1,2]. It is characterized by small, well delimited, hyperchromic macules, distributed in a limited area of the body, which can affect one or more dermatomes and stop at the median line.
    [Show full text]
  • Mallory Prelims 27/1/05 1:16 Pm Page I
    Mallory Prelims 27/1/05 1:16 pm Page i Illustrated Manual of Pediatric Dermatology Mallory Prelims 27/1/05 1:16 pm Page ii Mallory Prelims 27/1/05 1:16 pm Page iii Illustrated Manual of Pediatric Dermatology Diagnosis and Management Susan Bayliss Mallory MD Professor of Internal Medicine/Division of Dermatology and Department of Pediatrics Washington University School of Medicine Director, Pediatric Dermatology St. Louis Children’s Hospital St. Louis, Missouri, USA Alanna Bree MD St. Louis University Director, Pediatric Dermatology Cardinal Glennon Children’s Hospital St. Louis, Missouri, USA Peggy Chern MD Department of Internal Medicine/Division of Dermatology and Department of Pediatrics Washington University School of Medicine St. Louis, Missouri, USA Mallory Prelims 27/1/05 1:16 pm Page iv © 2005 Taylor & Francis, an imprint of the Taylor & Francis Group First published in the United Kingdom in 2005 by Taylor & Francis, an imprint of the Taylor & Francis Group, 2 Park Square, Milton Park Abingdon, Oxon OX14 4RN, UK Tel: +44 (0) 20 7017 6000 Fax: +44 (0) 20 7017 6699 Website: www.tandf.co.uk All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, electronic, mechanical, photocopying, recording, or otherwise, without the prior permission of the publisher or in accordance with the provisions of the Copyright, Designs and Patents Act 1988 or under the terms of any licence permitting limited copying issued by the Copyright Licensing Agency, 90 Tottenham Court Road, London W1P 0LP. Although every effort has been made to ensure that all owners of copyright material have been acknowledged in this publication, we would be glad to acknowledge in subsequent reprints or editions any omissions brought to our attention.
    [Show full text]
  • Partial Unilateral Lentiginous and Colon Polyp in a Young Male Patient
    Volume 9 • Number 1 • March 2018 JOURNAL OF CLINICAL AND ORIGINALCASE REPORT ARTICLE EXPERIMENTAL INVESTIGATIONS Partial Unilateral Lentiginous and Colon Polyp In A Young Male Patient Gülhan Gürel1, Sevinç Şahin2, Emine Çölgeçen1 1Department of Dermatology, Bozok University School of Medicine, Yozgat, ABSTRACT Turkey 2 Department of Pathology, Bozok Partial unilateral lentiginosis is an unusual pigmentary disorder characterized by numerous University School of Medicine, Yozgat, lentigines grouped within an area of normal skin. Pigmented macules are usually localized in Turkey one half of the body. Associations with café-au-lait spots, cutis marmorata, acanthosis nigricans, nevus depigmentosus, vitiligo, blue nevus, segmental neurofibromatosis, central nervous system diseases, celiac disease, and sickle cell anemia have been reported. We describe a 17-year-old male patient with a partial unilateral lentiginous lesion on the left side of the body and left upper back and incidental polyp in the descending colon. Key Words: Partial unilateral lentiginosis, polyp, colon Corresponding author: Gülhan Gürel, Department of Dermatology, Medical Faculty, Bozok University, 66200 Yozgat, INTRODUCTION colonoscopy had been performed. Polyp was Turkey. detected in the descending colon and Partial unilateral lentiginosis (PUL) is an E-mail: [email protected] histopathology was interpreted as tubular unusual pigmentary disorder characterized by adenoma (Figure 1). The patient’s medical history numerous lentigines grouped within an area revealed no remarkable abnormalities. There of normal skin [1]. It was first described by were no hyperpigmented macules or similar McKelway in 1904 in a patient with unilateral intestinal polyps in his family. General physical distribution [2]. It usually occurs at birth or examination was unremarkable.
    [Show full text]