Results 81 to 90 of about 4,315 (233)
Skin‐Colored Papules on the Face and Chest of a Female Patient
Clinical Case Reports, Volume 13, Issue 9, September 2025.ABSTRACT Scleromyxedema is an unpredictable but progressive disease and can be lethal due to systemic involvement if not diagnosed timely. Hence, we require a keen observational clinical eye to diagnose the condition from its differentials, along with further research into treatment modalities to treat this condition.
Mehdi Ghahartars +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
“Clinical Overlap of Darier's Disease and Acrokeratosis Verruciformis of Hopf”: A Case Report
Clinical Case Reports, Volume 13, Issue 9, September 2025.ABSTRACT Darier's disease and Acrokeratosis Verruciformis of Hopf can exhibit overlapping clinical features due to mutations in the same ATP2A2 gene. Recognizing this genetic and phenotypic overlap is crucial for accurate diagnosis, genetic counseling, and treatment, especially in mixed presentations of these rare genodermatoses.
Mahesh Mathur +5 more
wiley +1 more source
Aberrant lipid metabolism disrupts calcium homeostasis causing liver endoplasmic reticulum stress in obesity. [PDF]
, 2011 The endoplasmic reticulum (ER) is the main site of protein and lipid synthesis, membrane biogenesis, xenobiotic detoxification and cellular calcium storage, and perturbation of ER homeostasis leads to stress and the activation of the unfolded protein ...
AK Cardozo +33 more
core +2 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
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
Darier-White disease of the vulva. Presentation of a patient
Acta Médica del Centro, 2014 The Darier-White disease is an uncommon genodematoses, the transmisision of autosomal dominant, characterized by lesions involving papulokeratosic mucosal and nails; may appear papules on the vulva, specifically.
Mabel González Escudero +2 more
doaj
Expectativa histopatológica dos diagnósticos clínicos de ceratose solar. [PDF]
, 1998 Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Clínica Cirúrgica, Curso de Medicina, Florianópolis ...
Topanotti, Maria Luzia
core
Unexpected high frequency of genital involvement in women with clinical and hostological features of oral lichen planus [PDF]
, 2006 The main aims of this cross-sectional study were: (i) to assess the frequency of genital (vulval) lichen planus (VLP) and vulval lichen sclerosus (VLS) in women affected with oral lichen planus (OLP), regardless of the genital symptoms reported; and (ii)
BELFIORE, P +6 more
core +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