Keratoderma, hypotrichosis and leukonychia totalis: a new syndrome?

Başaran, Erdal; Yılmaz, Ertan; Alpsoy, Erkan; Yilmaz, Gülsün Gülay

doi:10.1111/j.1365-2133.1995.tb02720.x

Cited by 26 publications

(17 citation statements)

References 3 publications

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“…Unlike ODDD, KHLT has severe skin dysfunction with hyperkeratosis of areas of the body prone to friction (e.g., ankles, elbows, and knuckles), congenital alopecia, and white discoloration of all twenty nails [97]. In vitro experiments showed that the mutation increased hemichannel activity [51].…”

Section: Human Epidermal Disorders Caused By Connexin Mutationsmentioning

confidence: 99%

Connexin channels in congenital skin disorders

Lilly

Sellitto

Milstone

et al. 2016

Seminars in Cell & Developmental Biology

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Gap junctions and hemichannels comprised of connexins influence epidermal proliferation and differentiation. Significant advances in our understanding of the functional role of connexins in the skin have been made by studying the diseases caused by connexin mutations. Eleven clinically defined cutaneous disorders with an overlapping spectrum of phenotypes are caused by mutations in five different connexin genes, highlighting that disease presentation must be deciphered with an understanding of how connexin functions are affected. Increasing evidence suggests that the skin diseases produced by connexin mutations result from dominant gains of function. In palmoplantar keratoderma with deafness, the connexin 26 mutations transdominantly alter the function of wild-type connexin 43 and create leaky heteromeric hemichannels. In keratitis-ichthyosis-deafness syndrome, different connexin 26 mutations can either form dominant hemichannels with altered calcium regulation or increased calcium permeability, leading to clinical subtypes of this syndrome. It is only with detailed understanding of these subtle functional differences that we can hope to create successful pathophysiology driven therapies for the connexin skin disorders.

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Section: Human Epidermal Disorders Caused By Connexin Mutationsmentioning

confidence: 99%

Connexin channels in congenital skin disorders

Lilly

Sellitto

Milstone

et al. 2016

Seminars in Cell & Developmental Biology

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“…Stevanović 1959 first described a four‐generation family segregating for a syndrome of hypotrichosis (alternatively named congenital alopecia; CA) and palmoplantar keratoderma (PPK; alopecia congenita with keratosis palmoplantaris, OMIM 104100). Since then, this condition was described in few families with the designation of cataracts–alopecia–sclerodactyly [Wallis et al, 1989], Vohwinkel disease with CA universalis [Bhatia et al, 1989], Alves syndrome [Stratton et al, 1993], and keratoderma–hypotrichosis–leukonychia totalis [Başaran et al, 1995]. The combination of PPK and hypotrichosis can be also observed in various well‐defined genodermatoses, but all of them can be differentiated on the basis of specific additional manifestations.…”

Section: Introductionmentioning

confidence: 99%

Palmoplantar keratoderma, pseudo‐ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma‐congenital alopecia syndrome

Castori

Valiante

Ritelli

et al. 2010

American J of Med Genetics Pt A

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Palmoplantar keratoderma (PPK) may concur with congenital alopecia (CA) in various genodermatoses. We report on a 10-year-old girl with generalized atrichia and a severe form of PPK causing pseudo-ainhum, sclerodactyly, and contractures, a phenotype not consistent with any well-defined condition. Non-specific additional findings comprised mild nail dystrophy and widespread keratosis pilaris including ulerythema ophryogenes. Direct sequencing of the GJB2 and LOR coding regions yielded normal results. A review identified two additional sporadic and four familial cases with PPK and CA. Comparison between familial cases suggested the existence of two genetically and phenotypically distinct types of PPK-CA: (i) an autosomal dominant form (Stevanović type), a variable and benign phenotype without significant hand complications, and (ii) a more complex autosomal recessive variant (Wallis type) with contractures, sclerodactyly, and pseudo-ainhum. Nuclear cataract may represent an additional although not constant finding in the Wallis type PPK-CA. Further reports are required to test this preliminary conclusion.

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“…Basaran et al [27] reported three relatives with congenital hypotrichosis, characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. The described patients also developed a progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region.…”

Section: Keratoderma Hypotrichosis and Leukonychia Totalismentioning

confidence: 98%