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CASE REPORT
Year : 2009  |  Volume : 54  |  Issue : 5  |  Page : 11-13
Dyschromatosis symmetrica hereditaria (reticulate acropigmentation of dohi): First report from Iran


Razi Hospital, Vahdate-Eslami Sq. 11966, Tehran University of Medical Sciences, Tehran, Iran

Correspondence Address:
Katrin Kiavash
Razi Hospital, Tehran University of Medical Sciences, Vahdate-Eslami Sq. 11966, Tehran
Iran
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Source of Support: None, Conflict of Interest: None


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   Abstract 

Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant genodermatosis, presenting in infancy or early childhood with areas of hyperpigmentation on dorsa of hands and feet. DSH has been reported mainly from Japan and only limited cases have been reported from other countries. This is the first report of an Iranian patient with this rare type of acropigmentation. Our patient's family history was striking with the same disorder in her grandmother, mother, uncle and her two older sisters which reveal an autosomal dominant pattern of inheritance.


Keywords: Dyschromatosis symmetrica hereditaria, reticulate acropigmentation of Dohi, acropigmentation of kitamura


How to cite this article:
Barzegari M, Kiavash K. Dyschromatosis symmetrica hereditaria (reticulate acropigmentation of dohi): First report from Iran. Indian J Dermatol 2009;54, Suppl S1:11-3

How to cite this URL:
Barzegari M, Kiavash K. Dyschromatosis symmetrica hereditaria (reticulate acropigmentation of dohi): First report from Iran. Indian J Dermatol [serial online] 2009 [cited 2019 Oct 14];54, Suppl S1:11-3. Available from: http://www.e-ijd.org/text.asp?2009/54/5/11/45432



   Introduction Top


Dyschromatosis symmetrica hereditaria (DSH) is a rare genodermatosis which is also known as reticulate acropigmentation of Dohi. It presents during infancy or early childhood with areas of hyperpigmentation on dorsa of hands and feet and sometimes forearms and legs. Face is usually spared, but it is sometimes affected by a few scattered, small, pigmented macules. [1] DSH has an autosomal dominant inheritance but a few cases with an autosomal recessive inheritance have been reported. [2]

DSH was first described as a clinical entity by Toyama in 1929. [3] To date less than 200 cases have been reported in literature and most of these cases have been from Japan. [4] This is the first report of an Iranian patient with DSH.


   Case History Top


A 9-year-old Iranian girl presented with hyper and hypopigmented macules over the dorsa of hands and feet with proximal extension to entire length of her legs and forearms [Figure 1], sparing the palmoplantar surfaces. Freckle-like macules were apparent on her cheek. Her detailed examination revealed melanotic macules on the surface of both axillaries but other signs of neurofibromatosis including neurofibromas or cafι au lait macules were absent. There was no palmar pit or breakage of epidermal ridge pattern. No mucous lesions were observed. The lesions were totally asymptomatic. Our patient's intelligence was normal and her systemic examination revealed no abnormality. Laboratory evaluation was also completely normal.

She was the third born child of her non-consanguineous parents. In her infancy the parents noted hyperpigmented areas intermingled with hypopigmented areas first on her dorsa of feet and hands. These hyperpigmented areas gradually darkened and extended proximally to her forearms and legs after one year. A few years later, her face showed discrete, small freckle like macules but no new lesion had appeared in the last few years. No history of darkening of lesions after sun exposure or photosensitivity was obtained. She had no particular past medical history.

The reason for her delayed referral to the dermatologist was presence of the same pigmented disorder in her grandmother, her own mother, her uncle and her two older sisters [Figure 2].

Biopsy of one of hyperpigmented macules on her forearm showed accentuation of melanin in the basal layer of the epidermis [Figure 3] and only mild melanocytic proliferation. Diagnosis of DSH was made.


   Discussion Top


First described in 1929 by Toyama in a 13-year-old boy, DHS is a rare acral type of dyschromatosis characterized by mottled pigmentation developing on acral areas. Pigmentation begins in infancy or childhood, usually before 6 years of age, and gradually increases in depth and extent. Skin lesions remain localized on the extremities in nearly half of the patients and involve face and extremities in the remaining half. The lesions usually stop spreading before adolescence. Biopsy of hyperpigmented and hypopigmented macules shows basal melanosis and hypomelanosis, respectively. [4]

History, physical examination and biopsy findings of our patient were in accordance with DSH. The only unusual finding was freckle like macules on both of our patient's axillae. Although association of DHS and neurofibromatosis has been reported previously, [5] we didn't find any report indicating presence of isolated axillary freckles in DHS. Our patient was investigated for other features of neurofibromatosis but no abnormality was found. Other reported disorders associated with DSH include idiopathic torsion dystonia, [6] β thalassemia major and polydactyly. [7] None of these were present in our patient.

It is characterized by numerous small, round pigmented macules that resemble freckles that involve mainly axilla and groin. Other areas like intergluteal and inframammary folds, scalp, trunk, neck and arms may also be involved. Other features that may be present include pitted perioral acneiform scars and dark-comedo like lesions. The histology is diagnostic, showing elongation, tufting and deep hyperpigmentation of the rete ridges. [8] Although presence of axillary freckle-like macules points to the diagnosis of DDD, sparing of other flexure areas, presentation of disease in an early age, absence of reticulate pattern, comedo-like lesions and pitted scars, and absence of irregular elongation of branching rete ridges in pathology clearly distinguish our patient's syndrome from DDD.

Most cases of DSH are inherited as autosomal dominant, although an autosomal reccesive variant of DHS has been reported. The autosomal dominant form of DSH is due to mutation in the DSRAD gene which encodes a double-stranded RNA-specific adenosine deaminase. [9] Our patient's family history was striking with the same disorder in her grandmother, mother, uncle and her two older sisters which reveal an autosomal dominant pattern of inheritance. It is interesting that the only case reported from our region showed an autosomal recessive pattern of inheritance. [10]

DHS has been reported mainly from Japan. To date, less than 20 cases have been reported from outside of Japan. Recently, cases with DSH have been report from Egypt [7] and Saudi Arabia. [10] To our knowledge, this is the first report of DHS from Iran. Existence of axillary freckle-like macules is a new finding not previously reported.

 
   References Top

1.Rao KS, Shetty JN. Acropigmentation of Dohi. Indian J Dermatol Venereol Leprol 1998;64:128-9.  Back to cited text no. 1    Medknow Journal
2.Urabe K, Hori Y. Dyschromatosis. Semin Cutan Med Surg 1997;16:81-5  Back to cited text no. 2  [PUBMED]  
3.Toyama I. Dyschromatosis symmetrica hereditaria. Jpn J Dermatol 1929;29:95-6.  Back to cited text no. 3    
4.Oyama M, Shimizu H, Ohata Y, Tajima S, NishikawaT. Dyschromatosis symmetrica hereditaria (reticulate acropigmentation of Dohi): Report of a Japanese family with the condition and a literature review of 185 cases. Br J Dermatol 1999;140:491-6.  Back to cited text no. 4    
5.Tan H, Tay YK. Neurofibromatosis and reticulate acropigmentation of Dohi: A case report. Pediatr Dermatol 1997;14:296-8.  Back to cited text no. 5    
6.Patrizi A, Manneschi V, Pini A, Baioni E, Ghetti P. Dyschromatosis symmetrica hereditaria associated with idiopathic torsion dystonia: A case report. Acta Derm Venereol 1994;74:135-7.  Back to cited text no. 6  [PUBMED]  
7.El Darouti M, Marzouk SA, Fawzi M, Rabie M, El Tawdi A, Abdel Azziz M. Reticulate acropigmentation of Dohi: A report of two new associations. Int J Dermatol 2004;43:595-6  Back to cited text no. 7  [PUBMED]  [FULLTEXT]
8.James WD, Berger TG, Elston DM. Andrews diseases of the skin clinical dermatology. 10 th ed. Canada: Elsevier; 2006. p. 856.  Back to cited text no. 8    
9.Miyamura Y, Suzuki T, Kono M, Inagaki K, Ito S, Suzuki N, et al . Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. Am J Hum Genet 2003;73:693-9.  Back to cited text no. 9    
10.Alfadley A, Al Ajlan A, Hainau B, Pedersen KT, Al Hoqail I. Reticulate acropigmentation of Dohi: A case report of autosomal recessive inheritance. J Am Acad Dermatol 2000;43:113-7.  Back to cited text no. 10    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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    Abstract
    Introduction
    Case History
    Discussion
    References
    Article Figures

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