|Year : 2016 | Volume
| Issue : 2 | Page : 108-110
Dyschromatosis universalis hereditaria in three siblings
YJ Bhat MD, FACP , I Latief, I Hassan
Postgraduate Department of Dermatology, STD and Leprosy, Government Medical College, Srinagar, University of Kashmir, Jammu Kashmir, India
|Date of Web Publication||27-Dec-2016|
Dr. Y J Bhat
Assistant Professor, Postgraduate Department of Dermatology, STD and Leprosy, Government Medical College, Srinagar, University of Kashmir, Jammu and Kashmir 190010
Source of Support: None, Conflict of Interest: None
Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis, which has been reported most often from Japan. The etiology of this disorder is not yet known. DUH is characterized by mixtures of hyperpigmented- and hypopigmented macules all over the body. Skin lesions are usually present in the first years of life. The trunk and extremities are the dominant sites. We report this pigmentary disorder in three siblings, two females and one male. These siblings presented with hypo- and hyperpigmented macules arranged in a reticulate pattern over trunk, dorsal and ventral aspects of legs and arms, and dorsa of both hands and feet. The biopsy findings were also consistent with DUH. Autosomal dominant pattern of inheritance was seen as one of the parents was also affected. There was no systemic involvement.
Keywords: Dyschromatosis universalis hereditaria, genodermatosis, siblings
|How to cite this article:|
Bhat Y J, Latief I, Hassan I. Dyschromatosis universalis hereditaria in three siblings. Pigment Int 2016;3:108-10
| Introduction|| |
Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by the presence of hypo- and hyperpigmented macules in a reticulate pattern, mainly over trunk and limbs. Majority of the cases show autosomal dominant pattern of inheritance, and a few have inherited it in an autosomal recessive fashion. The etiology is unknown. Most of the cases are reported from Japan; few familial cases have been reported from Europe, China, South America, Saudi Arabia, and India.,,,, Here, we report this rare pigmentary disorder in three siblings.
| Case Report|| |
Three siblings, two females and one male, aged 18, 15, and 9 years, respectively, presented to our department with hypo- and hyperpigmented macules arranged in a reticulate pattern over trunk, legs and arms, and dorsa of both hands and feet. Face, palms, and soles were spared. The lesions were noticed few years after birth in all three of them and increased progressively with age. The siblings were the products of first-degree consanguineous marriage, all born by normal vaginal delivery and had normal developmental milestones. There was no history of photosensitivity, seizures, or any other systemic illness. As there was history of similar lesions in one of the parents, the inheritance was autosomal dominant.
On physical examination, multiple, well-defined, bilaterally symmetrical hyper- and hypopigmented macules of variable sizes and shapes were present in a reticulate pattern over trunk, dorsal and ventral aspects of arms and legs, and dorsa of both hands and feet, with sparing of face, palms, and soles [Figure 1]a,[Figure 1]b. There was no atrophy or telangiectasias in the affected areas. Hair, teeth, nails, and mucosae were normal. Ophthalmological, ear, nose, and throat (ENT), and systemic examinations showed normal results.
|Figure 1: (a) Symmetrically distributed hyper- and hypopigmented macules present over limbs of three siblings. (b) Symmetrically distributed hyper- and hypopigmented macules present over limbs in one child|
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The baseline investigations including electrocardiogram (ECG), chest X-ray, and ultrasound abdomen also showed normal results. Histopathological examination of skin was performed in all three of them, which showed focal decrease in the number of melanocytes and melanin in the hypopigmented areas and pigmentary incontinence in the hyperpigmented areas, consistent with DUH [Figure 2]. The pedigree chart is shown as in [Figure 3].
|Figure 2: Photomicrograph showing melanin incontinence in hyperpigmented areas in DUH (Hematoxylin and Eosin, 400×)|
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| Discussion|| |
Dyschromatoses are a group of disorders characterized by the presence of small irregular hyper- and hypopigmented macules. The spectrum includes DUH, dyschromatosis symmetrica hereditaria (DSH), or acropigmentation of Dohi and a segmental form called unilateral dermatomal pigmentary dermatosis (UDPD). DUH is a rare autosomal dominant genodermatosis, which was first described by Ichikawa and Hiraga in 1933. In the past, it was considered to be a disorder of melanocyte number, but now, based on a recent electron microscopic study, it has been suggested that DUH may be a disorder of production of melanosomes in epidermal melanin unit. DUH is characterized by mixture of hyper- and hypopigmented macules occurring all over the body. Skin lesions are usually present in the first years of life. The trunk and extremities are the dominant sites. Facial lesions were seen in almost 50% of affected individuals, but involvement of palms and soles is unusual. In our case, face was not involved in any of the three, and palms and soles were also spared.
Abnormalities of hair and nails have also been reported. In our case, however, hair, nails, and mucosae were normal. The histopathology typically shows a focal increase or decrease in melanin content of the basal layer (depending on the type of the lesion biopsied) and occasionally pigmentary incontinence. It can be associated with abnormalities of dermal connective tissue, nerve tissue, or with other systemic complications., No such features, however, were present in our patients.
Skin lesions of DUH have to be differentiated from conditions as given in [Table 1]. Once thought to be confined to Japan, DUH is being increasingly reported from other countries including India.,,
|Table 1: Differential diagnosis of dyschromatosis universalis hereditaria|
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]