|Year : 2017 | Volume
| Issue : 1 | Page : 43-45
Sporadic dyschromatosis universalis hereditaria: A rare case report
Shweta Manchanda, Ravish Arora, MM Lingaraj
Department of Dermatology, Venereology and Leprology, J.J.M. Medical College, Davangere, Karnataka, India
|Date of Web Publication||12-Dec-2016|
Room No. 9, Bapuji Hospital, J.J.M. Medical College, Davangere, Karnataka
Source of Support: None, Conflict of Interest: None
Dyschromatosis universalis hereditaria (DUH) is a rare genodermatoses characterized by hyperpigmented and hypopigmented macules inherited most commonly in autosomal dominant manner. We hereby report a case of DUH in an adolescent male with palmo-plantar involvement and no family history of the disorder.
Keywords: Dyschromatosis universalis hereditaria, genodermatoses, mottled, palms, reticular
|How to cite this article:|
Manchanda S, Arora R, Lingaraj M M. Sporadic dyschromatosis universalis hereditaria: A rare case report. Indian J Paediatr Dermatol 2017;18:43-5
|How to cite this URL:|
Manchanda S, Arora R, Lingaraj M M. Sporadic dyschromatosis universalis hereditaria: A rare case report. Indian J Paediatr Dermatol [serial online] 2017 [cited 2019 Dec 13];18:43-5. Available from: http://www.ijpd.in/text.asp?2017/18/1/43/193025
| Introduction|| |
Dyschromatosis universalis hereditaria (DUH) is an infrequently occurring genodermatosis characterized by peculiar pigmentary changes, consisting of intermingled hyperpigmented and hypopigmented macules of varying sizes that give an overall impression of mottling. Most reported cases are in Japanese literature. The majority of cases show an autosomal dominant pattern of inheritance.
| Case Report|| |
A 16-year-old male patient from rural South India presented to us with chief complaints of asymptomatic lesions over trunk, upper and lower limbs, face, palms, and soles since birth. History of photosensitivity or photophobia was absent. There was no history of consanguinity among the parents and none of the family members were similarly affected. Lesions were insidious in onset, first appeared on trunk and gradually spread to involve other sites.
Cutaneous examination revealed multiple, well-defined to ill-defined hypopigmented and hyperpigmented macules of various sizes, distributed bilaterally symmetrically on the trunk [Figure 1], upper and lower limbs [Figure 2], face, palms [Figure 3], and soles. There was no atrophy or telangiectasia of the affected skin. Mucosae were spared. Hair, nails, and teeth were normal. Systemic, ophthalmic, and otorhinolaryngological examination revealed no abnormalities.
Routine laboratory investigations including blood count, urine analysis, liver function tests, renal function tests, and electrolytes were within normal limits. Ultrasonogram of the abdomen showed no detectable abnormality.
Biopsy from the hyperpigmented lesion on the back showed basal layer hypermelanosis without any pigmentary incontinence [Figure 4]. Based on these findings, a clinical diagnosis of DUH was made, and the patient and his parents were counseled regarding the nature and course of the disease.
|Figure 4: Histopathological examination showing basal layer hypermelanosis|
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| Discussion|| |
Dyschromatoses are a group of disorders characterized by the presence of both hyperpigmented and hypopigmented macules. These are a spectrum of diseases, which includes DUH, dyschromatosis symmetrica hereditaria, Dowling-Degos disease, and a segmental form called unilateral dermatomal pigmentary dermatosis.
DUH is a rare genodermatosis, first described by Ichikawa and Hiraga in 1933 and has been reported most often from Japan. Although the majority of cases show an autosomal dominant pattern of inheritance, a few have inherited it in an autosomal recessive fashion. In the case of our patient, we could not elicit any family history.
In DUH, skin lesions are usually present in the 1st year of life. The trunk and extremities are the dominant sites. Facial lesions are seen in almost 50% of affected individuals, but the involvement of palms and soles is unusual. Abnormalities of hair and nails have also been reported.
The etiology of this disorder is not known. Recently, ABCB6 has been identified as the gene associated with DUH. It has been suggested in the past that DUH was a disorder of melanocyte numbers. A recent ultrastructural skin investigation revealed that DUH is a disorder of melanosome synthesis rate or melanocyte activity and not a disorder of melanocyte numbers.
DUH may be associated with abnormalities of dermal connective tissue, nerve tissue or may have other systemic complications. No such features were present in our patient.
The dyschromias leads to cosmetic disfigurement which causes significant psychosocial consequences.
Lesions of DUH have to be differentiated from xeroderma pigmentosum, since in both the disorders patients clinically show lesions in the photoexposed areas. However, in DUH lesions occur in the unexposed sites as well. Moreover, the lesions show no atrophy or telangiectasia. The lesions also run a benign course.
In general, DUH does not progress or worsen with age. Spontaneous regression is not known.
Financial Support and Sponsorship
This case is reported due to its rarity and lack of familial involvement.
Conflicts of Interest
There are no conflicts of interest.
| References|| |
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]