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Tuberous sclerosis complex associated with dyschromatosis universalis hereditaria

Published on Jan 1, 2006in Indian Journal of Dermatology, Venereology and Leprology3.03
· DOI :10.4103/0378-6323.26729
Mp Binitha2
Estimated H-index: 2
,
Daisy Thomas2
Estimated H-index: 2
,
Lk Asha2
Estimated H-index: 2
Abstract
Tuberous sclerosis is an autosomal dominant disease due to mutations in two genetic loci, characterized by hamartoma formation in the skin, nervous system, heart, kidney, and other organs. Dyschromatosis universalis hereditaria is an autosomal dominant genodermatosis, characterized by small hyperpigmented and hypopigmented macules, uniformly distributed over the entire body. The face is rarely involved, and the palms, soles, and mucous membranes are usually spared. We report a case of tuberous sclerosis with dyschromatosis universalis hereditaria, with hyperpigmented and hypopigmented macules affecting the palms, soles, and oral mucosa. To our knowledge, this is the first reported case of such an association.
  • References (7)
  • Citations (6)
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References7
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#1J. I. HarperH-Index: 1
#2R. C. TrembathH-Index: 1
60 CitationsSource
Dowling‐Degos disease is a rare autosomal dominant inherited pigmentary disorder characterized by reticulate pigmentation of the flexures, prominent comedone like lesions and pitted scars. Dyschromatosis universalis hereditaria is characterized by the presence of hypopigmented as well as hyperpigmented macules. We report a family showing features of both these diseases.
13 CitationsSource
#1G SethuramanH-Index: 4
#2Mariette D'SouzaH-Index: 7
Last. L. Smiles (PSG Institute of Medical Sciences and Research)H-Index: 2
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Summary Dyschromatosis universalis hereditaria is a clinically heterogenous disorder. We report two unrelated Indian patients with dyschromatosis universalis hereditaria, who had generalized and progressive reticulate hyper- and hypo-pigmentation of the skin. The oral mucosa and tongue also showed mottled pigmentation. Intriguingly, the palms and soles were also affected with a diffuse hyper-pigmentation interspersed with spotty de-pigmented macules. Dystrophic nail changes with pterygium format...
23 CitationsSource
#1E.S. Roach (UTSW: University of Texas Southwestern Medical Center)H-Index: 6
#2Manuel Gómez Pallarés (Mayo Clinic)H-Index: 64
Last. Hope Northrup (University of Texas at Austin)H-Index: 35
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At the recent tuberous sclerosis complex consensus conference, the clinical diagnostic criteria for tuberous sclerosis complex were simplified and revised to reflect both new clinical information about tuberous sclerosis complex and an improved understanding of the disorder derived from molecular genetic studies. Based on this new information, some clinical signs once regarded as pathognomonic for tuberous sclerosis complex are now known to be less specific. No single sign is present in all affe...
847 CitationsSource
Summary A 10-year-old Chinese boy with the characteristic skin manifestations of dyschromatosis universalis is described. In addition, the patient had congenital nystagmus with poor visual acuity, and ophthalomological examination revealed foveal hypoplasia and albino-like fundi. Histopathology showed giant pigment granules in the skin. Based upon the finding of giant pigment granules in clinically normal skin of the patient's mother, the patient was diagnosed as a case of dyschromatosis univers...
13 CitationsSource
A case of dyschromatosis universalis hereditaria is reported in a 16-year-girl. She had asymptomatic spotty, depigmented and hyperpigmented macules distributed bilaterally all over the body, sparing the palms and soles. She also had associated grandmal epilepsy since early childhood. The common origin of epidermis and brain from ectoderm suggests that the association of epilepsy and dyschromatosis universalis hereditaria in this patient is more than fortuitous.
7 Citations
#1R.J.G. Rycroft (St. John's Hospital)H-Index: 26
#2C.D. Calnan (St. John's Hospital)H-Index: 5
Last. R.S. Wells (Guy's Hospital)H-Index: 5
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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.
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Cited By6
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#2Jennyfer Granizo-Rubio (Central University of Ecuador)
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#1Swapan SardarH-Index: 1
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Dyschromatosis universalis hereditaria (DUH) is a rare pigmentary disorder characterized by the presence of mottled hyperpigmented and hypopigmented macules over the trunk, extremities, and face. We have presented a case series comprised of six members of a family who had numerous hyperpigmented and hypopigmented macules distributed all over the body. Histological findings were suggestive of dyschromatosis universalis hereditaria.
#1Shiva Kumar (Sri Devaraj Urs Medical College)
#2Okade Rajendra (Sri Devaraj Urs Medical College)
Last. Harish Prasad (Sri Devaraj Urs Medical College)
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#1Wei Lien WangH-Index: 27
#2Alexander LazarH-Index: 1
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#1Yi-Ying Chin (KMU: Kaohsiung Medical University)H-Index: 3
#2Gwo-Shing Chen (KMU: Kaohsiung Medical University)H-Index: 25
Last. Cheng-Che E. Lan (KMU: Kaohsiung Medical University)H-Index: 21
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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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#1Rocío MarecosH-Index: 1
#2Elisa CubillaH-Index: 2
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