Results 71 to 80 of about 2,444 (225)
Non-familial Acrokeratosis Verruciformis of Hopf [PDF]
, 2011 Acrokeratosis verruciformis of Hopf is a rare genodermatosis with an autosomal dominant mode of inheritance. It is a disorder of keratinization, characterized by multiple, flat-topped, skin-colored keratotic lesions resembling plane warts typically ...
Alain +16 more
core +2 more sources
Dariers disease and pregnancy [PDF]
Dermatology Aspects, 2013 Abstract Darier's disease, also known as keratosis follicularis or Darier-White disease, is an autosomal dominant inherited condition.
Louise C O'halloran, Julie A. Quinlivan
openaire +2 more sources
JEADV Clinical Practice, Volume 4, Issue 3, Page 664-668, August 2025.ABSTRACT Mosaicism due to postzygotic mutations is more common than considered before the era of massive parallel sequencing. In the clinical dermatologic practice, it is important to recognize skin lesions and syndromes caused by genetic mosaicism, to initiate genetic testing and counsel the patient and families regarding prognosis and risk of ...
Cristina Has
wiley +1 more source
Segmental Darier’s disease, a rare disorder of keratinization: a case report
MGM Journal of Medical Sciences, 2021 We present a case of Darier disease which is a rare autosomal-dominant genodermatosis. It is clinically manifested by hyperkeratotic papules primarily affecting seborrheic areas.
Abeer M Ilyas, Ujwala Maheswari
doaj +1 more source
Categories of Cutaneous Mosaicism
JEADV Clinical Practice, Volume 4, Issue 3, Page 652-658, August 2025.ABSTRACT In this overview, the following 12 different categories of cutaneous mosaicism are considered: (1) Discrimination between monoallelic and biallelic mosaicism in autosomal dominant traits; (2) Segmental versus disseminated mosaicism in autosomal dominant disorders.
Rudolf Happle
wiley +1 more source
ALA-PDT combined with 2940 nm ablative fractional Er:YAG laser for Darier's disease
Photodiagnosis and Photodynamic TherapyDarier's disease is a rare, genetically determined dyskeratotic skin disorder. Although many conventional treatments have been reported, management of Darier's disease remains challenging.
Tingting Gao +5 more
doaj +1 more source
Clinical Classification of Mosaicism
JEADV Clinical Practice, Volume 4, Issue 3, Page 646-651, August 2025.Mosaic skin abnormalities can present under a segmental pattern or as ¡non‐segmental skin lesions. Non‐segmental mosaicism (Figure 1, a‐c), which is most common, includes individual point lesions, tumors, hamartomatous lesions, or malformations. Segmental mosaicism (Figure 2, a‐f)is less common and presents as asymmetric cutaneous lesions in one or ...
Andrea Diociaiuti +3 more
wiley +1 more source
Optimisation of recombinant production of active human cardiac SERCA2a ATPase [PDF]
, 2013 Methods for recombinant production of eukaryotic membrane proteins, yielding sufficient quantity and quality of protein for structural biology, remain a challenge.
Antaloae, Ana V. +4 more
core +3 more sources
Increased activation of ErbB and NFκB signalling pathways in Darier disease affected skin
Journal of the European Academy of Dermatology and Venereology, EarlyView.
Nancy Ernst +2 more
wiley +1 more source