Results 81 to 90 of about 6,899 (169)
Acta Oto-Laryngologica Case Reports, 2017 GJB2 gene mutation is the most common cause of congenital sensorineural hearing loss worldwide. Most GJB2 gene mutations have been associated with autosomal recessive non-syndromic hearing loss (DFNB1), but some are also associated with autosomal ...
Yasuhiro Arai +5 more
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Olmsted syndrome: Report of two cases
Indian Journal of Dermatology, 2011 Olmsted syndrome is an uncommon genetic disorder with symmetrical, diffuse, transgredient, mutilating palmoplantar keratoderma and periorificial hyperkeratosis. Olmsted syndrome in a female patient is particularly rare, and we report two unrelated female
G K Tharini +3 more
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Seasonal Palmar Keratoderma in Erythropoietic Protoporphyria Indicates Autosomal Recessive Inheritance [PDF]
, 2009 Erythropoietic protoporphyria (EPP) is an inherited disorder that results from partial deficiency of ferrochelatase (FECH). It is characterized clinically by acute photosensitivity and, in 2% of patients, liver disease.
Roberts, Andrew G. +30 more
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Unna Thost Keratoderma palmoplantar . A Case Report [PDF]
, 2011 The case of a 37 years old, black skinned, male patient who attended Dermatology Consultation in his health area is presented. The patient had skin lesions on the palms of his hands and the soles of his feet.
María Teresa Rodríguez Gandulla +2 more
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A Novel Insertional Mutation in Loricrin in Vohwinkel’s Keratoderma [PDF]
, 1998 A mutation in the gene encoding loricrin has recently been reported in a subset of patients with Vohwinkel’s Keratoderma manifesting an associated ichthyosiform dermatosis. We have studied a further kindred with this clinical phenotype.
Hughes, Anne E. +2 more
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Reversing Plantar Keratoderma with Classical Homeopathy: A Case Report
Keratoderma refers to a group of skin conditions characterized by abnormal thickening of the skin, especially over the palms and soles. Plantar keratoderma specifically affects the soles, leading to thickened, scaly, and sometimes fissured skin.
Dr Shimul Jamatia
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A Case Report of Transgrediant Palmoplantar Keratoderma (Mal de Meleda) [PDF]
, 2015 : Mal de Meleda is a rare autosomal recessive transgredient keratoderma .Onset is in early childhood, and the development of hyperkeratosis is preceded by erythema. Patches of waxy ivory-yellow hyperkeratosis extend across the whole palms and soles, and
Darvish Damavandi F., Daraei Z., Shamsadini S.A.,
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PALMOPLANTAR KERATODERMA WITH SCLERODACTYLY (HURIEZ SYNDROME)
, 1992 A syndrome characterized by palmoplantar keratoderma, sclerodactyly, and skin cancer was first described in two families by Huriez et al. The pattern of inheritance was compatible with that of an autosomal dominant disorder. We report a patient with this
PATRONE, Pasquale, PATRIZI A, DILERNIA V
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Hereditary palmoplantar keratoderma - a focus on clinical and molecular genetic aspects.
, 2015 Hereditary palmoplantar keratoderma comprises a heterogenous group of genodermatoses. The clinical spectrum of palmoplantar keratoderma can range from pure skin thickening, restricted to palmoplantar skin to complex conditions with dental anomalies, eye ...
Kamaleswaran, Shailajah +3 more
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Bullous Congenitalichthyosiform Erythroderma - PS 1 Type
Indian Journal of Dermatology, 2003 We describe a case of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis) with severe transgradient type of palmoplantar keratoderma. It occurred in a thirty year old man, who was born out of first degree consanguineous marriage.
Dave Shriya +2 more
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