Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family

Abstract

Dyschromatosis universalis hereditaria (DUH) is an autosomal dominant cutaneous condition characterized by generalized well-demarcated hyperpigmented and hypopigmented macules. Here we are reporting five members of an Arabic family affected with this disease in two separate generations suggesting an autosomal recessive mode of inheritance.Four members of a Saudi Arabian family which consisted of three girls, four boys and both parents presented to the dermatology clinic with asymptomatic multiple, bilaterally symmetrical, progressive hypopigmented, depigmented and hyperpigmented, 2-5 mm in diameter macules all over the skin of the body including the face (figs 1 and 2). In all of the four children the condition started during either infancy or childhood. There was no history of photophobia, photosensitivity, hearing defect, preceding inflammatory dermatoses or even systemic disease. According to the mother all of her children had normal developmental milestones except for one of the affected sons who had delayed speech and later demonstrated difficulty in learning which delayed his progress in school. The grandmother had similar skin problem and parents were first-degree relatives.Upon examination of the skin of the affected children there were generalized hyperpigmented and hypopigmented macules of less than 5 mm in diameter giving the skin mottled appearance. The palms and soles, mucus membranes, teeth, and nails appeared normal. The hair colour was light brown which was different from the unaffected family members who had black hair. Otherwise the hair was of normal appearance. Systemic examination was negative. Biopsy from the hyperpigmented lesion in one of the boys showed basal layer hypermelanosis with pigmentary incontinence in some areas. So based on those findings a clinical diagnosis of DUH was made and the family is being followed up in our clinic for periodic general evaluation of their skin.Dyschromatoses are a group of disorders characterized by the presence of small and irregular-shape hyperpigmented and hypopigmented macules. There are two major forms -dyschromatosis symmetrica hereditaria (DSH) and dyschromatosis universalis hereditaria (DUH) -both of which are seen most commonly in Japan. 1 Some fig. 1 Reticulate multiple hyperpigmented and hypopigmented macules on the hands and feet. fig. 2Facial affection with hypopigmented and hyperpigmented macules.

Reticulate dermatoses

“…However, ocular and auditory anomalies, photosensitivity, developmental delay, and short stature are uncommonly reported,[50] so has been the autosomal recessive mode of inheritance. [52]…”

Disorders of pigmentation

“…445 This contrasts with dyschromatosis symmetrica hereditaria (see above) in which lesions are almost always acral in location. 461 In the autosomal recessive variant, a new locus on 12q21-q23 appears to be involved. [456][457][458][459][460] The gene responsible maps to chromosome 6q24.2-q25.2.…”

Dyschromatosis universalis hereditaria: Infrequent genodermatoses in India

“…However, a few cases of DUH were described among Europeans, South Americans, Indians, and Saudi Arabians and in Tunisia. [3456789]…”