Results 141 to 150 of about 1,347 (192)

Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review. [PDF]

Hum Genomics
Zhang Y, Zhao M, Li X, Zhao Y, Sun Y, Zhang J, Yu C, Zhou C.   +7 more
europepmc   +1 more source

Novel Compound Heterozygous Variants of <i>DSP</i> Causing Skin Fragility-Woolly Hair Syndrome: A Rare Case Report and Literature Review. [PDF]

Case Rep Dermatol
Yang M, Zhang G, Luo S.
europepmc   +1 more source

Naegeli-Franceschetti-Jadassohn syndrome: a systematic review of case studies. [PDF]

Front Med (Lausanne)
Shah HH, Hussain T, Subash A, Qadir RA, Meshram YR, Shahzad M, Sultan W, Hadi Z, Ashfaque F, Anas Z, Rauf SA, Waseem R, Hussain MS, Zuberi MAW.   +13 more
europepmc   +1 more source

Severe palmoplantar keratoderma: a cutaneous complication from sub-optimally controlled type 2 diabetes. [PDF]

Endocrinol Diabetes Metab Case Rep
Iqbal F, Phan K, Cheung WN.
europepmc   +1 more source

The use of upadacitinib for refractory pityriasis rubra pilaris: A case report. [PDF]

JAAD Case Rep
Batchelor T, Conner CD.
europepmc   +1 more source

Diffuse epidermolytic palmoplantar keratoderma transgrediens

, 2007
COLOMBO, Enrico, BORNACINA G, LEIGHEB, Giorgio, PERTUSI G, ZUCCOLI R, TERRINONI A, CODISPOTI A, TIBERIO R, PORTA A, ZOCCHI L, MELINO G   +10 more
core  

Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing

Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing
openaire  

Capecitabine-induced diffuse palmoplantar keratoderma: is it a sequential event of hand?foot syndrome?

Clinical and Experimental Dermatology, 2007
Capecitabine was developed as a prodrug of 5-fluorouracil (FU), with the goal of improving tolerability and intratumour drug concentrations through tumour-specific conversion to the active drug against numerous types of neoplasms. The most frequent adverse cutaneous reaction associated with capecitabine is hand foot syndrome (HFS), presented with ...
J E, Do, Y C, Kim
openaire   +3 more sources

Diffuse palmoplantar keratoderma with deafness.

Archives of dermatology, 1982
Two brothers with diffuse palmoplantar keratoderma (Thost-Unna type) also were deaf. Of the 38 members of the patients' family, five had a similar disorder and ten had only hearing loss. The mode of inheritance of the dermatosis is regarded as autosomal dominant and is diagnostically distinguished from the other dermatoses associated with the ...
A, Hatamochi, S, Nakagawa, H, Ueki, K, Miyoshi, I, Iuchi   +4 more
core   +4 more sources

Autosomal dominant diffuse nonepidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5

British Journal of Dermatology, 2015
Autosomal dominant diffuse non-epidermolytic palmoplantar keratoderma (NEPPK) is a clinically and genetically heterogeneous disorder, one form of which is associated with a whitish spongy appearance upon immersion in water (MIM 600231). Using linkage data in combination with whole-exome sequencing in families with NEPPK, heterozygosity for 5 different ...
Abdul-Wahab, A, Takeichi, T, Liu, L, Lomas, D, Hughes, B, Akiyama, M, McGrath, J A, Mellerio, J E   +7 more
openaire   +4 more sources