|LETTER TO EDITOR
|Year : 2016 | Volume
| Issue : 1 | Page : 26-27
Dyschromatosis universalis hereditaria with sensorineural hearing loss
Sudhaa Skin Centre, Jammu, Jammu and Kashmir, India
|Date of Submission||21-May-2016|
|Date of Acceptance||12-Jun-2016|
|Date of Web Publication||22-Nov-2016|
Sudhaa Skin Centre, 35-A, Lane No-7, Tawi Vihar, Sidhra, Jammu 180019, Jammu and Kashmir
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Gupta M. Dyschromatosis universalis hereditaria with sensorineural hearing loss. Egypt J Dermatol Venerol 2016;36:26-7
Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis clinically manifesting as hyperpigmented and hypopigmented macules forming a reticulate pattern in a generalized distribution. Although initially it has been reported mostly in Japan, subsequent cases have been reported from other countries. Systemic associations and abnormalities of hair and nails have also been reported . We report a case of DUH with associated nail changes and sensorineural hearing loss (SNHL) since birth.
A 60-year-old man, born of nonconsanguineous parents, presented to us with asymptomatic hypopigmented macules, which started appearing when he was 5 years of age over the trunk and gradually progressed to involve the whole body, palms, and soles. In due course, there was also appearance of numerous hyperpigmented macules, which also appeared initially over the trunk and then gradually progressed to involve the whole body. There was associated history of complete hearing loss in the right ear and partial hearing loss in the left ear since birth, which was nonprogressive. There was no history of any preceding dermatoses, drug intake, systemic illness, or exposure to chemicals. Developmental milestones were normal, and family history was unremarkable.
Cutaneous examination revealed symmetrically distributed, reticulated, hyperpigmented and hypopigmented macules, varying in size from 2–20 mm, over the whole body, with sparing of the face [Figure 1]. There was no associated erythema, telengiectasias, or atrophy. His palms and soles showed numerous hyperpigmented macules, and his were dystrophic with trachyonychia and pitting [Figure 2]. His mucosae and hair were normal. Audiological examination revealed complete SNHL in the right ear and partial SNHL in the left ear. Rest of the systemic examination did not reveal any abnormality. All the routine hematological, hepatic, and renal investigations were normal. Chest radiography and ultrasonogram of the abdomen also revealed no abnormality. On the basis of these findings, a diagnosis of DUH with SNHL was made.
|Figure 1: Generalized symmetrically distributed hyperpigmented and hypopigmented lesions on the trunk.|
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DUH is a rare genodermatosis, first described by Toyamo in 1929. Although the majority of cases show autosomal dominant distribution, a few cases with autosomal recessive inheritance have also been reported, and genetic loci over 6q24.2–q25.2 and 12q21–q23 have been mapped as well . The etiology of DUH is still unclear, but it has been hypothesized to be a disorder of melanosome production and distribution in epidermal melanin units rather than a disorder of melanocyte number . Clinically, it is characterized by numerous hyperpigmented and hypopigmented macules of varying sizes on the trunk and limbs. In most of the affected individuals, the lesions manifest by the age of 6 years, but late-onset manifestation has also been reported ,. Facial lesions are seen in up to 50% of the affected individuals, and involvement of the palms and soles is unusual. Associated cutaneous features such as hyperhidrosis, hypohidrosis, absent dermatoglyphics, mucosal changes such as leukokeratosis, and nail changes such as onychodystrophy have also been commonly reported ,,.
A large number of systemic associations have been reported with DUH including tuberous sclerosis, X-linked ocular albinism, grand mal epilepsy, glaucoma, cataract, learning difficulties, insulin-dependent diabetes mellitus, teeth abnormalities, and small stature . Ryrcroft et al.  reported a case of universal dyschromatosis associated with small stature and high-tone deafness in a 6-year-old girl born to consanguineous parents. Our case had similar associated SNHL in both ears since birth but there was absence of consanguinity, short stature, and other systemic features. These associations may indicate genetic linkage, and further genetic studies are required to precisely determine the various associations of DUH.There are no conflicts of interest.
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| References|| |
Al Hawsawi K, Al Aboud K, Ramesh V, Al Aboud D. Dyschromatosis universalis hereditaria: report of a case and review of the literature. Pediatr Dermatol 2002;19:523–526.
Kim NS, Im S, Kim SC. Dyschromatosis universalis hereditaria: an electron microscopic examination. J Dermatol 1997;24:161–164.
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[Figure 1], [Figure 2]
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