Case for diagnosis

Abstracts

A discromatose simétrica hereditária (acropigmentação de Dohi) é alteração pigmentar rara, genética, com padrão de herança autossômica dominante. Caracteriza-se por máculas hiper e hipocrômicas com padrão mosqueado e distribuição acral. Apresenta-se paciente masculino, 13 anos, com máculas hiper e hipocrômicas disseminadas no dorso das mãos e pés, além de efélides na face e lesões atróficas lineares periorbitárias. É necessário o diagnóstico diferencial com as outras pigmentações reticuladas.

Dermatopatias genéticas; Doenças da pele e do tecido conjuntivo; Hiperpigmentação; Hipopigmentação; Transtornos da pigmentação

WHAT IS YOUR DIAGNOSIS ?

Case for diagnosis

Giselle Carvalho Froes^I; Luciana Baptista Pereira^II; Vanessa Barreto Rocha^III

^IDermatologist, active member of the Brazilian Society of Dermatology

^IIAssistant Professor of the Dermatology Service of Faculdade de Medicina da Universidade Federal de Minas Gerais – Belo Horizonte (MG), Brazil

^IIIDermatologist, active member of the Brazilian Society of Dermatology

^{Mailing Address}

ABSTRACT

Dyschromatosis symetrica hereditaria (reticulate acropigmentation of Dohi) is a rare autosomal dominant disease. It starts as hyperpigmented and hypopigmented macules in reticular pattern on the extremities.

We present a case of a 13-year old boy that showed hyper and hypopigmented macules distributed on the dorsal aspects of the extremities, freckle-like pigmented macules on the face and periorbital atrophic linear lesions. Differentiation with others reticulate pigmentation manifestations is necessary.

Keywords: Hyperpigmentation; Hypopigmentation; Pigmentation disorders; Skin and connective tissue diseases; Skin diseases, genetic

DISEASE BACKGROUND

Brown, male, 13 year-old patient presented with a history of presenting ephelids in face since eight months of age. Hypochromic lesions in the periorbital region and extremities began at age seven. The patient reported exposure to intense sunshine throughout childhood. There were no similar cases in the family or consanguineous parents.

The dermatological examination showed small hyperchromic and hypochromic macules disseminated at back of hands (Figure 1) and feet (Figure 2); ephelids in face, mainly in malar regions and nasal dorsum; linear atrophic lesions in the periorbital region (Figure 3); periungueal hypochromia on hands (Figure 1) and feet; and light plantar keratosis. There were no punctiform depressions or dermatoglyph breaks on palms and plants.

The patient did not present alterations in other organs or systems. Blood count, liver and kidney function and lipid profile were within normal range.

The histopathological exam of the hypochromic and hyperchromic macules showed atrophy of the epidermis with irregular pigmentation on the basal layer and a light inflammatory lymphocyte-histiocyte perivascular infiltrate on the superior dermis.

COMMENTS

Dyschromatoses are pigment disorders characterized by hyperchromic and hypochromic macules, in a reticular pattern. Two main subtypes have been described: the generalized type (dyschromatosis universalis – DU) and the acral type (dyschromatosis symmetrica hereditaria - DSH). ¹ In DU (OMIM #127500)² lesions prevail on the trunk and emerge earlier, generally in the first year of life. In DSH, also called reticulate acropigmentation of Dohi (OMIM #127400), the hyperchromic and hypochromic macules prevail in extremities and emerge later, as of the sixth year of life.³

DSH has been described mainly in Japan, where it is not uncommon, but it is considered rare in the rest of the world.^1,3 It has a high penetrance dominant autosomal pattern of inheritance.³ However, rare cases of a recessive autosomal pattern have been described.^1,4 The mutation is located on gene 1q21.³, which codifies specific RNA adenosine deaminase.³ Skin lesions are characterized by small hyperpigmented and hypopigmented macules with a mosque pattern on the dorsal face of hands and feet and, sometimes, on forearms and lower limbs. They may also affect the lateral region of the neck and face. Small ephelid-like hyperpigmented macules emerge mainly in the malar regions. The picture begins in childhood, establishes itself in adolescence and remains throughout life.^1,4,5 Lesions prevail in photo exposed areas and in some cases there have been reports of worsening after sun exposure, although there is no evidence of photossensitivity.⁵

Histologically, there may light atrophy of the epidermis, increase in melanin on the basal layer, but with a normal number of melanocytes. In hypochromic lesions, there may or may not be absence or decrease in melanin, and the decrease is less pronounced in patients with a higher phototype.¹

Patients with DSH and fibromatosis, psoriasis or idiopathic dystonia have already been described, but associations are considered occasional. Overlapping with reticulate acropigmentation of Kitamura and Dowling-Degos disease has also been reported.⁴

The differential diagnosis should be made mainly with DU that was initially considered a generalized form of DSH and is currently defined as a separate entity, with a mutation on gene 6q24.2-q25.2. ² It should also be differentiated from remaining reticulate pigmentations, such as reticulate acropigmentation of Kitamura and Dowling-Degos disease. In the reticulate acropigmentation of Kitamura, hypopigmented macules are not present, but there are punctiform depressions with dermatoglyph breaks on palms. In patients with Dowling-Degos, lesions prevail at flexures, comedone-simile lesions are formed, and there are no hypochromic lesions.

REFERENCES

Conflict of interest: None

Financial funding: None

How to cite this article: Froes GC, Pereira LB, Rocha VB. Caso para diagnóstico. Discromatose simétrica hereditária (acropigmentação reticulada de Dohi). An Bras Dermatol. 2009;84(4):425-7.

• 1. 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
• ²
  Pubmed.gov [homepage on the Internet]. Dyschromatosis universalis hereditaria. OMIM (Online Mendelian Inheritance in Man). Johns Hopkins University; Inc.; 1966-2008 [updated 2004 Apr 15; cited 2005 Oct 3]. Available from: http://www.ncbi.nlm.nih.gov/
• ³
  Pubmed.gov [homepage on the Internet]. Dyschromatosis symmetrica hereditaria 1. OMIM (Online Mendelian Inheritance in Man). Johns Hopkins University; Inc.; 1966-2008 [updated 2003 Sep 5; cited 2008 Jan 1]. Available from: http://www.ncbi.nlm.nih.gov/
• 4. Agarwalla A, Agrawal S, Rijal A, Barman KD, Bhattarai S. Reticulate acropigmentation of Dohi: first case reports from Nepal. J Dermatol. 2003;30:748-50
• 5. Oyama M, Shimizu H, Ohata Y, Tajima S, Nishikawa T. 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

Publication Dates

• Publication in this collection
  19 Oct 2009
• Date of issue
  Aug 2009

History

• Received
  05 May 2009
• Accepted
  29 May 2009