Unilateral punctate porokeratosis - Case report [PDF]
, 2013 This case report involves a 20-year-old man with unilateral punctate porokeratosis. The patient presented an 8-year history of numerous asymptomatic keratotic papules and pits with linear distribution on his left pal-mar surface and fifth finger of the ...
Americo Figueiredo +14 more
core +2 more sources
Leukonychia: What Can White Nails Tell Us? [PDF]
, 2022 Changes in nail color can provide important clues of underlying systemic and skin disease. In particular, white discoloration (leukonychia) has a high prevalence with a wide array of potential relevant causes, from simple manicure habits to life ...
Iorizzo M, Pasch MC., Starace M
core +1 more source
Huriez syndrome caused by a large deletion that abrogates the skin‐specific isoform of SMARCAD1
, 2021 British Journal of Dermatology, Volume 184, Issue 6, Page 1205-1207, June 2021.
A.Y.T. Loh +8 more
wiley +1 more source
Hereditary palmoplantar keratoderma: A practical approach to the diagnosis
Indian Dermatology Online Journal, 2019 The ridged skin of the palms and soles has several unique features: (i) presence of dermatoglyphics created by alternating ridges and grooves forming a unique pattern, (ii) presence of the highest density of eccrine sweat glands and absence of ...
Tanvi Dev +2 more
doaj +1 more source
Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome [PDF]
, 2003 Background: PLS is a rare autosomal recessive disorder characterized by early onset periodontopathia and palmar plantar keratosis. PLS is caused by mutations in the cathepsin C (CTSC) gene.
Veeriah Selvaraju +7 more
core +1 more source
Pathophysiology of pachyonychia congenita‐associated palmoplantar keratoderma: new insights into skin epithelial homeostasis and avenues for treatment [PDF]
, 2020 Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/154394/1/bjd18033.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/154394/2/bjd18033_am ...
Coulombe, P.A., Zieman, A.G.
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Special Care in Dentistry, Volume 40, Issue S1, Page 3-81, November 2020., 2020 ABSTRACT Background Inherited epidermolysis bullosa (EB) is a genetic disorder characterized by skin fragility and unique oral features. Aims To provide (a) a complete review of the oral manifestations in those living with each type of inherited EB, (b) the current best practices for managing oral health care of people living with EB, (c) the current ...
Susanne Krämer +21 more
wiley +1 more source
Adult-onset porokeratotic eccrine ostial and dermal duct nevus:dermatoscopic findings and treatment with tazarotene [PDF]
, 2020 Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare dermatosis initially described as ‘comedo nevus’ and renamed ‘PEODDN’; it has also been referred to as linear eccrine nevus with comedones, porokeratotic eccrine ostial and hair ...
Alomran, Husain, Kanitakis, Jean
core
A novel AAGAB mutation in a Peruvian family with punctate palmoplantar keratoderma
Acta Dermatovenerologica Alpina Pannonica et Adriatica, 2021 Buschke-Fischer-Brauer (BFB) disease is a rare keratoderma characterized by multiple hyperkeratotic lesions on the palms and soles, with an autosomal dominant pattern. In several countries, some genetic alterations have been associated with this clinical entity.
Gómez-García, Ana C +5 more
openaire +2 more sources
Pachyonychia congenita: A rare genodermatosis
Indian Dermatology Online Journal, 2013 Pachyonychia congenita (PC) is a rare genodermatosis with only 450 cases reported since 1906. It is of two types, type I due to mutation in genes 6a and 16, and 6b and 17 in type II with an autosomal dominant inheritance in both types. A 22 yr old female
Puneet Agarwal +6 more
doaj +1 more source