Results 61 to 70 of about 3,796 (217)
ABSTRACT Introduction Hailey‐Hailey disease (HHD) is a rare genodermatosis caused by mutations in the ATP2C1 gene that codes for SPCA1, a calcium transporter in the epidermis. HHD impairs quality of life, and no curative treatment exists. Methods To confirm the efficacy and safety of CO2 laser in HHD, we conducted a randomized, prospective, controlled ...
Javier Antoñanzas +7 more
wiley +1 more source
Darier′s disease - Oral, general and histopathological features in a 7 year old child
Darier′s disease, also known as keratosis follicularis, is a rare autosomal dominant genodermatosis, manifesting clinically as hyperkeratotic, firm papule that predominates in the seborrheic areas and flexures with accompanying nail abnormalities.
Sreedevi Dharman, Muthukrishnan Arvind
doaj +1 more source
A Case of Acrokeratosis Verruciformis Treated with Acitretin [PDF]
Acrokeratosis Verruciformis is a rare autosomal dominant genodermatosis. Typically, the lesions are small, verrucous, flat papules on the dorsal aspects of the hands and feet, elbows and knees.
Ayten Ferahbaş +3 more
core
Annually recurring erythema annulare centrifugum: a case report [PDF]
Introduction: Erythema annulare centrifugum is a rare cutaneous disease characterized by erythematous and violaceous annular plaques that usually involved the thighs and the legs.
Barbara Ferrari +4 more
core +1 more source
Darier disease is an uncommon genodermatosis characterized by verrucous papules in a seborrheic distribution. The linear form of this disease is rare and could result from genetic mosaicism in this autosomal dominant disorder. We report a case of linear Darier disease that involved the right lower limb with a zosteriform distribution.
Meziane, Mariame +4 more
openaire +4 more sources
Large autosomal copy-number differences within unselected monozygotic twin pairs are rare [PDF]
Monozygotic (MZ) twins form an important system for the study of biological plasticity in humans. While MZ twins are generally considered to be genetically identical, a number of studies have emerged that have demonstrated copy-number differences within ...
Martin, Nicholas G. +3 more
core +2 more sources
Dermatology 2.0: Precision medicine for inflammatory skin diseases
Digital immune mapping of transcriptomics profiles from inflammatory skin disease biopsies enables precise molecular diagnosis, quantification of immune modules and personalized therapy selection by matching dominant immune signatures to targeted treatments.
Jeremy Di Domizio +4 more
wiley +1 more source
Omalizumab for Pediatric Cutaneous Mastocytosis: Case Report and Review
ABSTRACT We report an 11‐month‐old boy with diffuse cutaneous mastocytosis whose severe pruritus and steroid dependence resolved following off‐label treatment with omalizumab. A literature review identified five additional pediatric cases in which omalizumab led to complete symptom resolution in an average of 2 months and permitted discontinuation of ...
Janis Chang +3 more
wiley +1 more source
Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease [PDF]
BACKGROUND: Reticulate pigmentary disorders include the rare autosomal dominant Galli–Galli disease (GGD) and Dowling–Degos disease (DDD). Clinical diagnosis between some of the subtypes can be difficult due to a degree of overlap between clinical ...
Kokkonen, E. W. J. +6 more
core +2 more sources

