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Universal dyschromatosis, small stature and high‐tone deafness

Published on Mar 1, 1977in Clinical and Experimental Dermatology1.771
· DOI :10.1111/j.1365-2230.1977.tb01536.x
R.J.G. Rycroft26
Estimated H-index: 26
(St. John's Hospital),
C.D. Calnan5
Estimated H-index: 5
(St. John's Hospital),
R.S. Wells5
Estimated H-index: 5
(Guy's Hospital)
Abstract
Summary A syndrome of hyper- and hypopigmentation with melanin, small stature and high-tone deafness is described in the 6-year-old daughter of a first cousin marriage. The condition is discussed in relation to other similar inherited dyschromatoses.
  • References (7)
  • Citations (25)
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References7
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Four or possibly five males in a kinship group had features of dyskeratosis congenita, a syndrome comprising poikiloderma atrophicans vasculare, dystrophia unguium, and leukoplakia oris. In addition, three members of the kinship demonstrated hematologic changes compatible with the hypoplastic anemia described by Fanconi. Based on the hemopoietic disturbance found in these three cases and that observed in seven similar cases from the literature, it is believed that the abnormalities associated wi...
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During the year 1959-60 in the Department of Dermatology of the Vargas Hospital in Caracas, we studied 5 adult patients with a peculiar new pigmentary disorder. This preliminary article will describe our investigations and attempt to classify this disease.
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Increased pigmentation of the skin due to melanin occurs in many unrelated conditions and is produced by a variety of causes. It is usually possible to differentiate between types of pigmentation and to classify them as entities resulting from local or systemic causes. Congenital and progressive pigmentation is seldom described. Because of its rarity such a condition associated with dystrophy of the nails and slight atrophy of the skin in two sisters and a cousin is reported. REPORT OF CASES Cas...
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1. Two familial cases of dyschromatosis universalis hereditaria are reported. 2. In the same family the occurrence of similar dermatoses is noted in five generations. 3. Unexposed parts of the body is as strongly affected as the exposed area. And even the palm and sole are involved. 4. The pigmentary disturbance is caused by genotype with epistases of some other factors than photosensitivity. 5. Thus the relationship with dyschromatosis symmetrica hereditaria is rejected in spite of clinical res...
25 CitationsSource
Before the advent of modern study of pigment, 1 in which the dopa reaction of Bloch and the silver nitrate reaction for darkening melanin are the most essential methods, it was difficult to diagnose many dermatoses characterized predominantly by abnormality of melanotic pigmentation. Since that time many conditions have been more or less satisfactorily evaluated as far as the actual pigmentary process is concerned. The underlying etiologic mechanism may, however, defy all efforts at solution. Th...
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Cited By25
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#2Jennyfer Granizo-Rubio (Central University of Ecuador)
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Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant inherited dermatosis which usually appears during childhood and is characterized by dyspigmentation, with both hypopigmented and hyperpigmented macules. We report a case of DUH with unexplained childhood-onset renal failure. The association between DUH and renal failure is yet to be proven by further studies.
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Dear Editor: Dyschromatosis universalis hereditaria (DUH) is a rare hereditary skin disorder that is characterized by a mixture of small and irregularly sized hyperpigmented and hypopigmented macules of a mottled or reticulated pattern. The usual onset age of DUH is 6 years1. The common pattern of inheritance is generally autosomal dominant; however, rarely, a few cases show a sporadic pattern. Some authors named this form as dyschromatosis universalis (DU) instead of DUH2. We report a case of D...
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Dear Editor: Kaposi sarcoma (KS), first described by Moriz Kaposi in 1872, is a vascular neoplasm with multicentric cutaneous and extracutaneous involvements1. It can be categorized into four clinical variants: classical, iatrogenic, African, and acquired immunodeficiency syndrome related. We report a rare case of classic KS in a patient with lesions localized on both palms and both soles. An 87-year-old Korean man with Alzheimer dementia visited our clinic with a 6-month history of painful skin...
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Dyschromatosis universalis hereditaria (DUH) is a rare disease that is inherited both in autosomal dominant and autosomal recessive patterns. It is characterized by appearance of pinpoint to pea-sized hypo- and hyper-pigmented macules distributed in a reticulated pattern over the trunk and limbs within the first few years of life. Although the pathogenesis is still not clear, some authors proposed that decreased melanosome synthesis rate may underlie this disorder. We describe a 56-year-old fema...
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Dyschromatosis universalis hereditaria (DUH) is a clinically heterogeneous disorder that shows generalized mottled pigmentation. It occurs most commonly in Japanese persons, with sporadic reports from South Africa, India, and Iraq. Histopathology reveals a variable degree of pigmentary incontinence. Although the precise etiology of this disorder is not yet known, the clinicopathological findings implicate an inherent abnormality of melanosomes or melanin processing. We describe a case in a young...
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