Results 81 to 90 of about 9,158,896 (219)
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
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
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
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
Treatment of Darier’s disease with oral magnesium: a case report
SAGE Open Medical Case Reports, 2018 Darier’s disease, an autosomal dominant genodermatosis, arises from a mutation in the ATP2A2 gene that codes for sarco/endoplasmic reticulum Ca 2+ -ATPase in the endoplasmic reticulum and is characterized by greasy keratotic papules commonly found in ...
Heidi Oi-Yee Li +2 more
doaj +1 more source
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 23, Issue 8, Page 942-956, August 2025.Summary Background Mogamulizumab‐associated rash (MAR) is a frequent side‐effect of a treatment with Mogamulizumab that poses diagnostic challenges. Patients and methods We reviewed our database for novel histological patterns in MAR. Results Four new histological patterns were identified: (1) A pagetoid pattern, which could be mistaken for CD8 ...
Christina Mitteldorf
wiley +1 more source
Darier-White disease: A rare genetic disorder [PDF]
JDVI (Journal of General Procedural Dermatology & Venereology Indonesia), 2018 Background: The clinical manifestation of Darier-White disease, an autosomal dominant genodermatosis, are greasy hyperkeratotic papules in seborrheic regions with nail abnormalities and mucous membrane changes due to a defective sarcoendoplasmic calcium ...
Cara Lynn Marie N. Chia +3 more
doaj +1 more source
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 23, Issue 8, Page 942-957, August 2025.Zusammenfassung Hintergrund Der Mogamulizumab‐assoziierte Rash (MAR) ist eine häufige Nebenwirkung der Mogamulizumab‐Therapie und stellt eine diagnostische Herausforderung dar. Material und Methodik Unsere Datenbank wurde auf neuartige histologische Muster im Zusammenhang mit einem MAR überprüft.
Christina Mitteldorf
wiley +1 more source
Hailey‐Hailey Disease: An Updated Review With a Focus on Therapeutic Mechanisms
Health Science Reports, Volume 8, Issue 7, July 2025.ABSTRACT Background Hailey‐Hailey disease (HHD), or familial benign chronic pemphigus, is a rare autosomal dominant genodermatosis characterized by chronic, painful, erythematous, erosive plaques and fissures at sites of friction such as the neck, axilla, groin, and perineum.
Mahesh Mathur +4 more
wiley +1 more source