Results 81 to 90 of about 4,905 (212)

Olmsted Syndrome

open access: yesIndian Journal of Dermatology, 2002
Olmsted syndrome is a rare congential palmoplantar keratoderma with progressive periorificial hyperkeratotic lesions, alopecia areata, deafness, lental and nail changes. Only a few cases of this syndrome have been reported so far.
Mukhopadhyay Piyali   +3 more
doaj  

Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature

open access: yes, 2006
Loricrin keratoderma is an autosomal dominant palmoplantar keratoderma heterogeneous in clinical appearance. We report a family with diffuse ichthyosis and honeycomb palmoplantar keratoderma but no occurrence of pseudoainhums or autoamputations.
Traupe, H.   +5 more
core   +1 more source

Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma

open access: yes, 2017
Punctate palmoplantar keratoderma type 1 (PPPK1) is a rare autosomal dominant inherited skin disease, characterized by multiple hyperkeratotic lesions on the palms and soles. The causative gene for PPPK1 has been identified as AAGAB, which encodes α- and
J. McGrath   +9 more
core   +1 more source

The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report [PDF]

open access: yes, 2016
BACKGROUND: An autosomal dominant form of diffuse non-epidermolytic palmoplantar keratoderma, palmoplantar keratoderma of Bothnian type, is caused by mutations in the AQP5 gene encoding the cell-membrane water channel protein aquaporin 5 leading to ...
Hetland , Liv Eline   +11 more
core   +1 more source

Coexistence of Lichen Planus Pemphigoides, Palmoplantar Keratoderma of Unna-Thost, and Atopic Dermatitis

open access: yes, 2022
Lichen planus pemphigoides (LPP) is a very rare auto-immune blistering disease associated with lichenoid skin changes. Unna-Thost palmoplantar keratoderma (PKK) is a type of diffuse palmoplantar keratoderma that mostly affects the palms of the hands and ...
Mokos, Mislav   +1 more
core  

Aquagenic keratoderma. Two new case reports and a new hypothesis

open access: yesIndian Dermatology Online Journal, 2014
Aquagenic keratoderma has been described as a transient condition affecting predominantly young females and defined clinically by the appearance of palmar hyper-wrinkling accentuated after immersion in water.
Georgi Tchernev   +4 more
doaj   +1 more source

Hereditary palmoplantar keratoderma - a focus on clinical and molecular genetic aspects.

open access: yes, 2014
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
core  

Pundate palmoplantar keratoderma (Brauer-Buschke-Fischer syndrome)

open access: yes, 2007
Punctate palmoplantar keratoderma (PPPK) is a rare entity with an estimated prevalence rate of about 1.17 per 100 000. The exact etiology of the disorder is not known but a dual influence of genetic and environmental factors may trigger the disease.
Artuz, Ferda   +6 more
core   +1 more source

Olmsted syndrome with lateral supraciliary madarosis and clubbing: A rare case report

open access: yesIndian Dermatology Online Journal, 2018
Olmsted syndrome (OS) is a rare congenital, mutilating palmoplantar keratoderma first described by Olmsted in 1927. It starts in the neonatal period or in childhood, and has a slow but progressive disabling course. We report the case of a 16-year-old boy
Md Zeeshan   +2 more
doaj   +1 more source

Palmoplantar keratoderma in association with myxedema

open access: yesActa Dermato-Venereologica, 1986
A 63-year-old female who had been suffering from intractable palmoplantar keratoderma for 13 years was found to have myxedema. Shortly after institution of substitution therapy with thyroid hormone there was a striking improvement in her condition. The possibility of a causal relationship between hypothyroidism and hyperkeratosis is suggested.
E, Hodak, M, David, E J, Feuerman
openaire   +2 more sources

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