Results 31 to 40 of about 829 (188)

The molecular genetic analysis of the expanding pachyonychia congenita case collection [PDF]

, 2014
BackgroundPachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma (PPK) and nail dystrophy, often accompanied by oral leukokeratosis, cysts and follicular keratosis.
Wilson, N. J., Shepherd, A. A., Hansen, C. D., Sprecher, E., Milstone, L. M., McLean, W. H. I., Schwartz, M. E., Al-Asadi, E., Smith, F. J. D., O'Toole, E.   +9 more
core   +1 more source

Darier-White disease in siblings responding to isotretinoin

Indian Dermatology Online Journal, 2010
Darier-White disease (keratosis follicularis) is a rare disorder of keratinization involving the epidermis, mucous membranes, and nails. It is said to occur as a result of mutation in the ATP2A2 gene located on chromosome 12q23-24.1.
Ramesh M Bhat, Krithi Raviraj Ullal, Anita Caroline Pinto, D Sukumar   +3 more
doaj   +1 more source

MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans [PDF]

, 2012
Keratosis follicularis spinulosa decalvans (KFSD; OMIM 308800) is an X-linked disorder characterized by widespread hyperkeratotic follicular papules (including keratosis pilaris-like lesions), facial erythema, hypotrichosis and scarring alopecia.
Fong, K., McGrath, J. A., Tosi, I., Mellerio, J. E., Powell, A. M., Wedgeworth, E. K., Lai-Cheong, J. E.   +6 more
core   +1 more source

Keratosis Follicularis Spinulosa Decalvans in a female child- a rare presentation [PDF]

, 2017
Congenital alopecia universalis is a very rare presentation. A 6 year old girl came to us with total alopecia and multiple horny keratosis pilaris like skin lesions all over the body.
Loknath Ghoshal, Joyeeta Chowdhury, Saikat Bannerjee   +2 more
core   +1 more source

Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: Two syndromes that share a common clinical spectrum [PDF]

, 2021
Ichthyosis follicularis, atrichia and photophobia syndrome (IFAP) is an X-linked inherited disease caused by pathogenic variants in the gene encoding the membrane-bound transcription factor peptidase, site 2 (MBTPS2).
Inés Irurzun, Valinotto, Laura Elena, José A. Mássimo, Magdalena Lamberti, Agostinelli, María L., Manzur, Graciela B., María L. Agostinelli, Dolores Montero, Mássimo, José A., Irurzun, Inés, Natale, Mónica Inés, Mónica I. Natale, Graciela B. Manzur, Lamberti, Magdalena, Cecilia Granda, Montero, Maria Dolores, Granda, Cecilia María, Laura E. Valinotto   +17 more
core   +1 more source

Keratosis Follicularis Squamosa:Case Reports and Its Treatment. [PDF]

, 1964
Two patients with typical Keratosis follicularis squamosa were successfully treated by an occlusive dressing of α-tocopherol ointment.The skin lesions were applied with 2% α-tocopherol ointment and covered with Saran Wrap(a thin,flexible plastic film ...
神村, 瑞夫, 佐藤, 昌三, 佐々木, 直子   +2 more
core   +2 more sources

A Rare Clinical Presentation of Darier’s Disease

Case Reports in Dermatological Medicine, 2013
Darier’s disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare disorder of keratinization. It is an autosomal dominant genodermatosis with high penetrance and variable expressivity.
Mybera Ferizi, Antigona Begolli-Gerqari, Bostjan Luzar, Fisnik Kurshumliu, Mergita Ferizi   +4 more
doaj   +1 more source

Caso para diagnóstico Case for diagnosis

Anais Brasileiros de Dermatologia, 2009
Queratose folicular espinulosa decalvante é uma genodermatose rara, ligada ao X, caracterizada por hiperqueratose folicular, fotofobia, alopécia cicatricial do couro cabeludo e supercílios. Descreve-se o caso de paciente do sexo feminino, de 25 anos, com
Carine Veloso de Carvalho, Ivander Bastazini Junior, Jaison Antonio Barreto, Isabela de Brito Duarte, Raissa Borém Pimenta de Figueiredo   +4 more
doaj   +1 more source

Erythromelanosis follicularis faciei et colli: Relationship with keratosis pilaris [PDF]

, 2008
Erythromelanosis follicularis faciei et colli (EFF) is an unusual condition characterized by the triad of hyperpigmentation, follicular plugging and erythema of face and neck. This is less common in women and familial case reports are few. We report EFF
Augustine, M., Jayaseelan, E.
core   +2 more sources

Erythromelanosis follicularis faciei et colli: A first female case report from the outskirts of Libya and literature review

Indian Journal of Paediatric Dermatology, 2017
Erythromelanosis follicularis faciei (EFF) is a rare sporadic condition of unclear etiology and is distinctive by well-demarcated reddish-brown patches and follicular papules that appear often on the face and seldom on the neck.
Ebtisam Elghblawi
doaj   +1 more source