Results 71 to 80 of about 14,748 (240)

Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity [PDF]

, 2017
Heritable forms of ichthyoses, also referred to as generalized Mendelian disorders of cornification, are phenotypically a highly heterogeneous group of conditions caused by mutations in a number of genes playing a role in keratinocyte differentiation ...
Abiri, Maryam, Barzegar, Mohammadreza, Fortina, Paolo, Karamzadeh, Razieh, Mansouri, Parvin, Mccormick, Kevin, Mohammadi asl, Javad, Saeidian, Amir Hossein, Sotoudeh, Soheila, Uitto, Jouni, Vahidnezhad, Hassan, Youssefian, Leila, Zeinali, Sirous   +12 more
core   +1 more source

Mutilating keratoderma with concomitant alopecia and keratoses follicularis spinulosa decalvans: X-linked olmsted syndrome and its response to isotretinoin

Indian Dermatology Online Journal, 2017
We report a case of mutilating keratoderma with alopecia and keratoses follicularis spinulosa decalvans (KFSD), which was initially diagnosed as ectodermal dysplasia and Olmsted syndrome but was revisited as a case of X-linked Olmsted (XLO) syndrome.
Gunjan Verma, Kabir Sardana, R K Gautam
doaj   +1 more source

An analysis of oral biopsies extracted from 1995 to 2009, in an oral medicine and surgery unit in Galicia (Spain) [PDF]

, 2011
Objective: To conduct an analysis of the frequency of oral lesions in biopsies over a 14-year period in the Oral Medicine, Oral Surgery and Implantology Unit.
Diniz Freitas, Márcio, García García, Abel, Gándara Rey, José Manuel, Sixto Requeijo, Raquel, Torreira Lorenzo, Juan Carlos   +4 more
core   +1 more source

Efficacy of Apremilast in Refractory Genital Psoriasis: A Retrospective Case Series

JEADV Clinical Practice, Volume 4, Issue 5, Page 1150-1156, December 2025.
ABSTRACT Background Genital pustular psoriasis is a rare and often underdiagnosed condition that can severely affect physical comfort, quality of life and psychological well‐being. It can be particularly challenging to manage, often requiring systemic therapies due to its potential unresponsiveness to conventional topical treatment.
Jonathan Krygier, Ursula Sass, Bertrand Richert   +2 more
wiley   +1 more source

Keratitis-ichthyosis-deafness syndrome, atypical connexin GJB2 genemutation, and peripheral T-cell lymphoma: more than a random association? [PDF]

, 2011
Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by a variety of skin lesions— that is, palmoplantar keratoderma, thickening of the skin, and erythematous verrucous lesions—neurosensorial hypoacusia, and keratitis
Contini, Salvatore, Cottoni, Francesca Maria Giovanna, Cucca, Francesco, Fozza, Claudio, Galleu, Antonio, Longinotti, Maurizio Roberto, Poddie, Fausto Pier'Angelo   +6 more
core   +3 more sources

Palmoplantar keratoderma of Sybert

Dermatology Online Journal, 2003
A 13-year-old boy and a 7-year-old boy, who are brothers, presented with a life-long history of erythema, hyperkeratosis, and desquamation of the hands and feet. Symptoms improved with the use of topical glucocorticoids and keratolytics. PPK of Sybert is characterized by palmoplantar hyperkeratosis with transgrediens, autosomal dominant inheritance ...
Leonard, Aimee L, MD, Freedberg, Irwin M, MD   +1 more
openaire   +4 more sources

Mycosis Fungoides in Pediatric Patients Revealed by Recalcitrant Psoriasiform Palmoplantar Keratoderma

JEADV Clinical Practice, Volume 4, Issue 5, Page 1202-1206, December 2025.
ABSTRACT Mycosis fungoides is a cutaneous T‐cell lymphoma with a classically relatively good prognosis, mostly diagnosed in men over the age of 50. It classically manifests as erythematosquamous plaques, but can take a variety of forms. Here we describe four cases of mycosis fungoides diagnosed in children, with psoriasiform palmoplantar keratoderma as
S. Grandjacquot, C. Ram‐Wolff, A. De Masson, P. Drabent, S. Fraitag, P. Bataille, M. Battistella, E. Bourrat   +7 more
wiley   +1 more source

Ectodermal dysplasia-skin fragility syndrome: A rare case report

Indian Journal of Dermatology, 2015
Ectodermal dysplasia/skin fragility syndrome (ED-SFS) is a newly described autosomal recessive disorder characterized by skin fragility and blistering, palmoplantar keratoderma, abnormal hair growth, nail dystrophy, and occasionally defective sweating ...
Subhash Kashyap, Vinay Shanker, Neelam Sharma   +2 more
doaj   +1 more source

p63 is a key regulator of iRHOM2 signalling in the keratinocyte stress response. [PDF]

, 2018
Hyperproliferative keratinocytes induced by trauma, hyperkeratosis and/or inflammation display molecular signatures similar to those of palmoplantar epidermis.
Arcidiacono, P, Blaydon, DC, Brooke, MA, Chikh, A, Delaney, PJ, Kelsell, DP, Ng, K-E, Tinker, A, Webb, CM, Zhou, H   +9 more
core   +2 more sources

Pathophysiology of pachyonychia congenita‐associated palmoplantar keratoderma: new insights into skin epithelial homeostasis and avenues for treatment

British Journal of Dermatology, 2019
Pachyonychia congenita (PC), a rare genodermatosis, primarily affects ectoderm‐derived epithelial appendages and typically includes oral leukokeratosis, nail dystrophy and very painful palmoplantar keratoderma (PPK).
A. Zieman, Pierre A. Coulombe
semanticscholar   +1 more source