Results 71 to 80 of about 4,843 (250)
Incontinentia pigmenti: multisistemic genodermatosis.
Boletin medico del Hospital Infantil de Mexico, 2021 Incontinentia pigmenti is an X-linked genodermatosis generally lethal in males; thus, it presents almost exclusively in females. It is caused by a loss-of-function mutation in the IKBKG (inhibitor of kappa polypeptide gene enhancer in B cells, kinase gamma) gene that prevents the NFкβ (nuclear factor kappa-light-chain-enhancer of activated B cells ...
Adrián, Martínez-Gayosso +1 more
openaire +1 more source
Dyskeratosis congenita: a case report and review of literature [PDF]
, 2014 Dyskeratosis congenita (DC) is classically characterised by a mucocutaneous triad of reticulated poikiloderma, nail dystrophy and mucosal leukoplakia together with bone marrow failure and increased risk of malignancy1- 4.
Kader Ibrahim, Sabeera Begum +1 more
core
Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations. [PDF]
, 2015 Pseudoxanthoma elasticum (PXE), an autosomal recessive disorder characterized by ectopic mineralization, is caused by mutations in the ABCC6 gene. We examined clinically 29 Chinese PXE patients from unrelated families, so far the largest cohort of Asian ...
Jiang, Qiujie +7 more
core +3 more sources
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Oliver Brandt +2 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT We report the first female case of Goltz–Gorlin syndrome with the PORCN c.1093C>T (p.Arg365Trp) variant, previously described only in a male with Klinefelter syndrome. This case expands the known phenotypic and genotypic spectrum of FDH.
Anna Bolzon +5 more
wiley +1 more source
Senile Lentigo – Cosmetic or Medical Issue of the Elderly Population [PDF]
, 2010 Senile lentigo or age spots are hyperpigmented macules of skin that occur in irregular shapes, appearing most commonly in the sun- exposed areas of the skin such as on the face and back of the hands. Senile lentigo is a common component of photoaged skin
Marija Buljan +5 more
core +1 more source
Miscellanea. Folyóirat-referátumok. Könyvismertetés [PDF]
, 2015 Folyóirat-referátumok. Esetismertetés Lágyéki nyirokcsomó-elváltozást utánzó leiomyoma a vena saphena magnán (Leiomyoma of the greater saphenous vein mimicking inguinal lymphadenopathy. Case report) Dellaportas, D., Kotsis, T., Carvounis, E.,
Apor, Péter +3 more
core +1 more source
E‐SSSential questions and 3‐D mnemonic to diagnose dermatologic diseases
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Falk Ochsendorf
wiley +1 more source
Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations
The Journal of Dermatology, Volume 53, Issue 2, Page 169-179, February 2026.ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley +1 more source
, 2011 O termo úlcera de Marjolin é usado para designar a transformação maligna que se origina na pele cronicamente lesada. Trata-se de neoplasia mais agressiva do que aquelas não relacionadas com cicatriz e, frequentemente, é subdiagnosticada ou tratada de ...
ALMEIDA, José Roberto Paes de +4 more
core +3 more sources