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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
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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
Newest
Published on Feb 4, 2008
J. I. Harper1
Estimated H-index: 1
,
R. C. Trembath1
Estimated H-index: 1
Kamaldeep Sandhu12
Estimated H-index: 12
,
A Saraswat1
Estimated H-index: 1
,
Aj Kanwar1
Estimated H-index: 1
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.
Published on Sep 1, 2002in Clinical and Experimental Dermatology1.77
G Sethuraman4
Estimated H-index: 4
,
Mariette D'Souza7
Estimated H-index: 7
+ 2 AuthorsSmiles L2
Estimated H-index: 2
(PSG Institute of Medical Sciences and Research)
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...
Published on Dec 1, 1998in Journal of Child Neurology2.09
E.S. Roach6
Estimated H-index: 6
(UTSW: University of Texas Southwestern Medical Center),
Manuel Gómez Pallarés58
Estimated H-index: 58
(Mayo Clinic),
Hope Northrup34
Estimated H-index: 34
(University of Texas at Austin)
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...
Published on Nov 1, 1991in Clinical and Experimental Dermatology1.77
Jen‐Hong Yang1
Estimated H-index: 1
,
Chu‐Kwan Wong1
Estimated H-index: 1
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...
K. Pavithran1
Estimated H-index: 1
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.
Published on Mar 1, 1977in Clinical and Experimental Dermatology1.77
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)
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.
Cited By6
Newest
Published on Feb 1, 2016in Piel
Víctor Pinos-León1
Estimated H-index: 1
,
Jennyfer Granizo-Rubio (Central University of Ecuador)
Published on Jan 1, 2016in Dermatology Online Journal
Swapan Sardar1
Estimated H-index: 1
,
Anupam Das4
Estimated H-index: 4
,
Debabrata Bandyopadhyay9
Estimated H-index: 9
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.
Published on Mar 1, 2014in International Journal of Dermatology1.79
Shiva Kumar (Sri Devaraj Urs Medical College), Okade Rajendra (Sri Devaraj Urs Medical College), Harish Prasad (Sri Devaraj Urs Medical College)
Published on Jan 1, 2012
Wei Lien Wang24
Estimated H-index: 24
,
Alexander Lazar1
Estimated H-index: 1
Published on Dec 1, 2011in Dermatologica Sinica0.81
Yi-Ying Chin3
Estimated H-index: 3
(KMU: Kaohsiung Medical University),
Gwo-Shing Chen16
Estimated H-index: 16
(KMU: Kaohsiung Medical University)
+ 1 AuthorsCheng-Che E. Lan16
Estimated H-index: 16
(KMU: Kaohsiung Medical University)
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...
Published on Jan 1, 2011
Rocío Marecos1
Estimated H-index: 1
,
Elisa Cubilla2
Estimated H-index: 2
+ 1 AuthorsLuís Celías