Case for diagnosis

Abstracts

A acropigmentação reticulada de Dohi é distúrbio discrômico raro de herança autossômica dominante; a maioria dos casos foi descrita primeiramente no Japão. É relatada menina com lesões de distribuição e morfologia típicas. A biópsia de pele não foi considerada essencial para o diagnóstico. Após revisão da literatura, concluiu-se ser o terceiro caso publicado no Brasil.

Hiperpigmentação; Hipopigmentação; Pigmentação

WHAT IS YOUR DIAGNOSIS?

^IAssociate Professor - Faculty of Medicine, Universidade Federal do Rio de Janeiro (UFRJ) - Rio de Janeiro (RJ), Brazil

^IIResident Physician, Dermatology Service, Hospital Universitario Clementino Fraga Filho - Rio de Janeiro (RJ), Brazil

Mailing Address

ABSTRACT

Reticulate acropigmentation of Dohi is a rare dyschromic disorder of autosomal dominant inheritance. Most cases have been originally described in Japan. The case of a girl with lesions of typical distribution and morphology is reported. Skin biopsy was not considered essential for diagnosis. After literature review, it was concluded that this is the third case of the disorder reported in Brazil.

Keywords: Hyperpigmentation; Hypopigmentation; Pigmentation

HISTORY OF THE DISEASE

Female child, 3 years and 8 months old, white, with hypopigmented and hyperpigmented macular lesions, bilateral and symmetrical, forming a reticular pattern in the dorsum of hands and feet (Figure 1, Figure 2 e Figure 3). Lesions started on her first year of life and progressed slowly. They were not preceded by inflammatory dermatosis. Before being referred to the hospital, she was diagnosed with xeroderma pigmentosum. Upon examination, pigmented maculae combined with depigmented ones, asymptomatic, in the dorsum of hands and feet, ascending her ankles and wrists, were observed. Brownish, lentigo-like and freckle-like lesions in the face and trunk were also observed. Genital organs, oral mucosa, and palmoplantar region were free of lesions. Her sister, still nursing, shows the same pattern of lesions, although less numerous.

The criteria for diagnosis of reticulate acropigmentation of Dohi (RAD) were onset while breastfeeding, familial case, and pigmented and depigmented macular lesions forming a reticular pattern in the dorsum of hands.

The diagnosis of reticulate acropigmentation of Kitamura was dismissed due to age range (the disorder appears in the 1st/2nd decades), presence of hypopigmented maculae (only hyperpigmented maculae are seen in acropigmentation of Kitamura), and absence of atrophy and palmar depressions (lesions are slightly atrophic and polygonal and palmar depressions are present).

Since pigmented maculae and ephelides in the exposed areas were not predominant, and actinic keratosis, strong photosensitivity and photophobia were not observed, the diagnosis of xeroderma pigmentosum was dismissed.

A typical lesion characteristic of vitiligo is ivory white (milky-white or chalky white), while a typical lesion characteristic of RAD is a hypochromic macula.

Skin biopsies were not performed because clinical characteristics were apparently sufficient for the diagnosis of RAD.

No treatment was recommended. The patient received orientation and remains in ambulatorial follow-up.

COMMENTARIES

Reticulate acropigmentation of Dohi (RAD) is a rare, autosomal dominant disorder. It was originally described by Tomaya in 1910.¹ Dohi, in 1920, reported the condition in twelve Japanese patients, and the cases were later described by Komaya, in 1924, as symmetrical acropigmentation of Dohi.¹ The term dyschromatosis symmetrica hereditary (DSH) is more widely used and was designated by Tomaya in Japan in 1929.¹ RAD and DSH are considered identical. A few cases showed an autosomal recessive pattern.¹ It appears initially in breastfeeding infants as pigmented and depigmented maculae with a reticular pattern in the extremities. There is absence of palmar depressions. It can spread proximally and gradually with time, affecting lateral cervical regions, supraclavicular regions, and the face by adolescence. Histologically, epidermal atrophy, increase in the number of basal melanocytes in pigmented maculae, and reduced density of DOPA-positive melanocytes in depigmented maculae are observed. Initially, this clinical condition was considered specific Japanese/Korean dermatosis; however, similar cases have been described in other countries, including Brazil.^2,3,4,5

Lesions remain with the same aspect throughout life.¹ In most cases, RAD presents itself as an isolated entity. Association with neurofibromatosis, idiopathic torsion dystonia, β thalassemia major, and polydactyly has been reported.⁴ No treatment is suggested. However, ambulatorial follow-up is needed to assure parents or legal guardians.

REFERENCES

• 1. Agarwalla A, Agrawal Sudha, Rijal Arpana, Barman KD, Bhattarai S. Reticulate acropigmentation of Dohi: first case reports from Nepal. J Dermatol. 2003;30:748-50.
• 2. Dogra S, Saraswat A, Rai R, Kumar B. Acropigmentation of Dohi in Indian family. J Dermatol. 2002;29:386-8.
• 3. Obieta MP. Familial reticulate acropigmentation of Dohi: a case report. Dermatol Online J. 2006;12:16.
• 4. 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.
• 5. Aquino A, Abad E, Camilo C, Obadia I, Ramos-e-Silva M. Acropigmentação do Dohi. An Bras Dermatol. 1996;7:395-7.
• 6. Froes GC, Pereira LB, Rocha VB. Caso para diagnóstico. Discromatose simétrica hereditária (acropigmentação reticulada de Dohi). An Bras Dermatol. 2009;84(4):425-7.

Case for diagnosis

Nurimar Conceição Fernandes^I; Leonardo Ribeiro de Andrade^II

Publication Dates

• Publication in this collection
  06 May 2010
• Date of issue
  Feb 2010