Results 91 to 100 of about 10,294,639 (233)

Cutaneous Mastocytosis in Childhood. Retrospective Study of 32 Patients [PDF]

, 2012
Introdução: A designação de mastocitose engloba várias entidades clinicamente distintas caracterizadas pela acumulação tissular de mastócitos. A pele é o órgão mais frequentemente envolvido.
Amaro, C, Cardoso, J, Coelho Macias, V, Freitas, I, Vieira, R   +4 more
core  

The ABCC6 Transporter: A New Player in Biomineralization [PDF]

, 2017
Pseudoxanthoma elasticum (PXE) is an inherited metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. Since the first description of the disease in 1896, alleging a disease involving the elastic fibers, the concept ...
Arányi, Tamás, Favre, Guillaume, Fülöp, Krisztina, Laurain, Audrey, Szeri, Flóra   +4 more
core   +1 more source

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, Seyyede Zeinab Azimi, Mojgan Akbarzadeh Jahromi, Mohammad Reza Namazi   +3 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, Alexander R. Ivanov, B Cox, D Ron, E Erbay, G Li, GS Hotamisligil, Gökhan S. Hotamisligil, H Cao, HF Lodish, HL Kammoun, J Schiller, KH Cheng, L Moore, Lee Dicker, Ling Yang, M Kars, MF Gregor, MS Brown, NM Borradaile, Oliver Hofmann, Ping Li, RL Jacobs, S Oyadomari, SJ Kim, Steven M. Watkins, Suneng Fu, SW Park, SY Li, U Ozcan, Winston Hide, Xihong Lin, Y Li, Y Miyauchi   +33 more
core   +2 more sources

“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, Sumit Paudel, Sandhya Regmi, Sambidha Karki, Shilpa Maharjan, Nabita Bhattarai   +5 more
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, Amelia Betancourt Pérez, Dayren Peraza Cruz   +2 more
doaj  

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, CABIBI, Daniela, CAMPISI, Giuseppina, DE CANTIS, Stefano, DI FEDE, Olga, KERR, AR, MARESI, Emiliano   +6 more
core   +1 more source

An Asymptomatic Lesion on the Penis

JEADV Clinical Practice, Volume 5, Issue 1, Page 309-311, March 2026.
Brandon Tan, Karen Cheung, Xin Liu, Alexis Daniel Lara Rivero   +3 more
wiley   +1 more source

Genetic Testing in Mosaicism

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

Guttate hypopigmentation in Darier disease: A rare presentation

Pigment International
Darier disease (DD) is an autosomal dominant genodermatosis attributed to ATP2A2 gene mutation which encodes the sarco/endoplasmic reticulum Ca2+ATPase isoform 2.
Aradhana Rout, Ashish Kumar Pandey, Karthi Kishore   +2 more
doaj   +1 more source