1984
DOI: 10.1001/archderm.120.10.1323
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Variant of keratoderma hereditaria mutilans (Vohwinkel's syndrome). Treatment with orally administered isotretinoin

Abstract: Keratoderma hereditaria mutilans (KHM), or Vohwinkel's syndrome, is a rare genodermatosis consisting of hyperkeratosis of the palms and soles with a characteristic "honeycomb" appearance, keratotic structures taking the shape of a starfish and/or knuckle pads on the dorsal surfaces of the hands, and constricting bands (pseudoainhum) encircling digits of the hands and feet. We describe three cases of a variant of KHM with an associated ichthyosiform dermatosis in a pedigree consisting of 19 affected individuals… Show more

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Cited by 32 publications
(32 citation statements)
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“…These studies show that SKH-1 mice expressing TAM67 in the suprabasal epidermis develop a phenotype that includes progressive epidermal hyperkeratosis which is associated with parakeratosis, hyperkeratosis of the skin and base of the feet, and nuclear accumulation of loricrin. This phenotype closely resembles features of human keratoderma (Camisa and Rossana, 1984; Schmuth et al , 2004). …”
Section: Resultssupporting
confidence: 63%
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“…These studies show that SKH-1 mice expressing TAM67 in the suprabasal epidermis develop a phenotype that includes progressive epidermal hyperkeratosis which is associated with parakeratosis, hyperkeratosis of the skin and base of the feet, and nuclear accumulation of loricrin. This phenotype closely resembles features of human keratoderma (Camisa and Rossana, 1984; Schmuth et al , 2004). …”
Section: Resultssupporting
confidence: 63%
“…Pseudoainhum and autoamputation is associated with Vohwinkel Syndrome and the Camisa Vohwinkel Syndrome variant (Maestrini et al , 1999; Camisa and Rossana, 1984; Schmuth et al , 2004; Korge et al , 1997). In our model, suprabasal AP1 factor inactivation produces digit and tail pseudoainhum and autoamputation.…”
Section: Discussionmentioning
confidence: 99%
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“…Clinically, loricrin keratoderma exhibits a characteristic, honeycomb-like, palmo-plantar keratoderma; generalized fine-scaling; hyperkeratotic knuckle pads on the dorsal surface of the fingers; and constricting bands encircling the fingers and/or toes (pseudoainhum) (Vohwinkel, 1929;Camisa and Rossana, 1984;Camisa et al, 1988;Maestrini et al, 1996;Armstrong et al, 1998;Takahashi et al, 1999;O'Driscoll et al, 2002). Whereas insertional mutations that result in aberrant, elongated C-terminal domains of one loricrin allele are found in loricrin keratoderma (Maestrini et al, 1996), another hyperkeratotic skin disorder, keratoderma hereditaria mutilans (syn.…”
mentioning
confidence: 99%
“…The first successful use of etretinate in VS was reported in 1981 (5), and since then several equally positive reports have appeared using both acitretin and isotretinoin (6)(7)(8). Much less has been written about retinoid therapy in KID syndrome, although this disease has a proneness to skin eancer (4) which per se is an indication for retinoids.…”
mentioning
confidence: 99%