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Unilateral nevoid telangiectasia associated with ipsilateral melorheostosis.
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MedLine Citation:
PMID:  22577274     Owner:  NLM     Status:  PubMed-not-MEDLINE    
Abstract/OtherAbstract:
Melorheostosis is a rare disorder characterized by irregular, flowing hyperostosis in long bones, commonly described on radiographs as wax flowing down a candle. In addition to bony sclerosis, cutaneous manifestations overlying the involved bones have been reported including linear scleroderma, neurofibromatosis, and vascular and lymphatic malformations. Unilateral nevoid telangiectasia (UNT) is a rare primarily cutaneous condition characterized by linearly arranged small dilated blood vessels in dermatomal or Blaschkoid patterns on the skin. Here, we present the case of a nine-year-old Korean male with UNT associated with ipsilateral melorheostosis.
Authors:
Jihyun Kim; Sung Bin Cho; Suhyun Cho; Dongsik Bang
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Publication Detail:
Type:  Journal Article     Date:  2012-04-26
Journal Detail:
Title:  Annals of dermatology     Volume:  24     ISSN:  2005-3894     ISO Abbreviation:  Ann Dermatol     Publication Date:  2012 May 
Date Detail:
Created Date:  2012-05-11     Completed Date:  2012-05-14     Revised Date:  2013-05-29    
Medline Journal Info:
Nlm Unique ID:  8916577     Medline TA:  Ann Dermatol     Country:  Korea (South)    
Other Details:
Languages:  eng     Pagination:  206-8     Citation Subset:  -    
Affiliation:
Department of Dermatology and Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea.
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Journal Information
Journal ID (nlm-ta): Ann Dermatol
Journal ID (iso-abbrev): Ann Dermatol
Journal ID (publisher-id): AD
ISSN: 1013-9087
ISSN: 2005-3894
Publisher: Korean Dermatological Association; The Korean Society for Investigative Dermatology
Article Information
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Copyright © 2012 Korean Dermatological Association; The Korean Society for Investigative Dermatology
open-access:
Received Day: 05 Month: 4 Year: 2011
Revision Received Day: 04 Month: 5 Year: 2011
Accepted Day: 30 Month: 5 Year: 2011
Print publication date: Month: 5 Year: 2012
Electronic publication date: Day: 26 Month: 4 Year: 2012
Volume: 24 Issue: 2
First Page: 206 Last Page: 208
ID: 3346914
PubMed Id: 22577274
DOI: 10.5021/ad.2012.24.2.206

Unilateral Nevoid Telangiectasia Associated with Ipsilateral Melorheostosis
Jihyun Kim, M.D.A1
Sung Bin Cho, M.D., Ph.D.A1
Suhyun Cho, M.D.A1
Dongsik Bang, M.D., Ph.D.A1
Department of Dermatology and Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea.
Correspondence: Corresponding author: Dongsik Bang, M.D., Ph.D., Department of Dermatology and Cutaneous Biology Research Institute, Yonsei University College of Medicine, 50 Yonsei-ro, Seodaemun-gu, Seoul 120-752, Korea. Tel: 82-2-2228-2080, Fax: 82-2-393-9157, dbang@yuhs.ac

INTRODUCTION

Melorheostosis is a rare bone dysplasia characterized by localized hyperostosis and sclerosis, which usually affects unilateral long tubular bones1. Reported cutaneous manifestations overlying the involved bones in patients with melorheostosis include linear scleroderma, neurofibromatosis, and vascular and lymphatic malformations2. Unilateral nevoid telangiectasia (UNT) is a rare primarily cutaneous condition characterized by linearly arranged small dilated blood vessels in dermatomal or Blaschkoid patterns on the skin3. Here, we describe the case of a nine-year-old Korean male, who presented with both melorheostosis and UNT.


CASE REPORT

A nine-year-old male patient visited our clinic with multiple asymptomatic red to bluish macules on the left chest wall and left arm, which had persisted since birth. The boy's medical history as well as that of his family was unremarkable with no reports of hepatic disease or endocrinopathy. A physical examination revealed multiple dermatomal arranged linear telangiectasias on his left chest wall and left arm (Fig. 1). In addition, a hard bony mass was noted on his left wrist and his left arm length was shorter than that of his right arm. Roentgenogaraphic examination of the left arm was performed and showed diffuse bony sclerotic changes in the distal humerus, ulna, carpal, and second to fourth metacarpal and phalangeal bones (Fig. 2A, B). Bone scintigraphy showed abnormal uptake in the left humerus, radius, and hand bones (Fig. 2C). Based on the roentgenographic and bone scintigraphy findings, the patient was diagnosed with melorheostosis.

A skin specimen obtained from the lesions on the left arm showed numerous dilated thin-walled, small-sized blood vessels in the papillary dermis (Fig. 3). Endothelial cells of the dilated blood vessels presented neither signs of vascular proliferation, nor pathologic findings of inflammatory cell infiltration. Based on the clinical features and histopathologic and radiographic findings, a diagnosis of UNT associated with ipsilateral melorheostosis was made.


DISCUSSION

Melorheostosis was first described by Leri and Joanny1 in 1922 and more than 250 cases have been reported since. In a review of 131 cases4, associated skin manifestations of melorheostosis were reported in 22 cases (16.8%) and described as scleroderma, neurofibromatosis, lymphatic and vascular lesions, and skin pigmentation. Cutaneous vascular lesions, including hemangioma, enlarged surface capillaries, ateriovenous aneurysm, vascular nevus, and glomus tumor, occurred in seven instances (5%).

Although the precise pathogenesis remains to be elucidated, there have been several proposed causes of melorheostosis. Primary developmental defects in mesodermal cells have been suggested as a major pathogenic factor in melorheostosis5. Murray and McCredie6 proposed that bony lesions are a late consequence of a segmental sensory nerve lesions that account for the sclerotomal distribution of the hyperostosis associated with the disorder. Currently, postzygotic mutation during embryogenesis is thought to contribute to the congenital nature and linear distribution of the lesions7.

UNT is characterized by unilateral dermatomal distribution of primary telangiectasia, which may be congenital or acquired. While the exact pathogenesis is unclear, an increased level of estrogen or estrogen receptors is accepted as the most possible cause of the acquired form8. However, there have been cases without significant elevation of estrogen levels and abnormal liver function tests. Therefore, considering that most nevoid skin diseases can be explained by genetic mosaicism, somatic mosaicism may be a more plausible cause than hyperestrogenemia in such cases.

Twin spotting refers to two recessive mutations on either pair of homologous chromosomes, which may lead to formation of two different homozygous daughter cells with two different mutant lesions by mitotic cross-over9. Because both melorheostosis and UNT can have mosaicism as a common pathogenic origin, the coexistence of these two rare entities can also be explained by twin spotting, which was proposed by Happle9 as a potential mechanism for the development of coexisting birthmarks. In addition, previous reports have described cases of twin spotting associated with either melorheosotosis or UNT7,8. In this report, we present a patient with both melorheostosis and UNT. We also suggested that the association between the two conditions may be explained by twin spotting.


References
1. Leri A,Joanny JP. Une affection non décrite des os: hyperostose "en coulée" sur toute la longueur d'un membre ou "mélorhéostose"Bull Mem Soc Med Hop ParisYear: 19224611411145
2. Taylor DR. A case of melorheostosis with associated linear cutaneous vascular malformationClin Exp DermatolYear: 1981647517273476
3. Kawakami T,Kimura S,Soma Y. Unilateral nevoid telangiectasia on the lower extremity of a pediatric patientJ Am Acad DermatolYear: 20106252853020159330
4. Morris JM,Samilson RL,Corley CL. Melorheostosis. Review of the literature and report of an interesting case with a nineteen-year follow-upJ Bone Joint Surg AmYear: 1963451191120614078566
5. Miyachi Y,Horio T,Yamada A,Ueo T. Linear melorheostotic scleroderma with hypertrichosisArch DermatolYear: 197911512331234507873
6. Murray RO,McCredie J. Melorheostosis and the sclerotomes: a radiological correlationSkeletal RadiolYear: 197945771505048
7. Youssoufian H,Pyeritz RE. Mechanisms and consequences of somatic mosaicism in humansNat Rev GenetYear: 2002374875812360233
8. Uhlin SR,McCarty KS Jr. Unilateral nevoid telangiectatic syndrome. The role of estrogen and progesterone receptorsArch DermatolYear: 19831192262286824361
9. Happle R. Mosaicism in human skin. Understanding the patterns and mechanismsArch DermatolYear: 1993129146014708239703

Article Categories:
  • Case Report

Keywords: Melorheostosis, Nevoid, Telangiectasia, Unilateral.

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