Results 61 to 70 of about 3,504 (191)

Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds

, 2022
SIMPLE SUMMARY: The high prevalence of genetic diseases in dog breeds and the structure of their populations has led to detailed studies of the canine genome, which are important for understanding the origin of these pathologies.
Marín-García, Pablo Jesús, Pablo Jesús Marín-García, Lola Llobat, Llobat, Lola   +3 more
core   +1 more source

Incontinentia pigmenti with neurologic and oculodental disorders

Indian Journal of Paediatric Dermatology, 2016
Incontinentia pigmenti is a genodermatosis with X-linked dominant inheritance, characterized by cutaneous, neurologic, ophthalmologic, and dental abnormalities with a pattern suggestive of somatic mosaicism.
Jorge Arturo Avina Fierro, Daniel A Hernandez Avina   +1 more
doaj   +1 more source

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, María T, García-Romero   +1 more
openaire   +1 more source

“Quality of Life in Epidermolysis Bullosa” and “Epidermolysis Bullosa Burden of Disease”: Italian translation, cultural adaptation, and pilot testing of two disease-specific questionnaires

Italian Journal of Pediatrics
Background Inherited epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of skin fragility disorders characterized by blister formation following minor trauma.
May El Hachem, Andrea Diociaiuti, Giovanna Zambruno, Tonia Samela, Francesca Ferretti, Claudia Carnevale, Renata Linertová, Christine Bodemer, Dédée F. Murrell, Damiano Abeni   +9 more
doaj   +1 more source

Bullae and Scales in a Newborn

JEADV Clinical Practice, Volume 5, Issue 2, Page 719-721, June 2026.
Hamad El Hajj, Dima Jeha, Andre Megarbane, Hala Megarbane   +3 more
wiley   +1 more source

Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12‐Year‐Old Girl With Goltz–Gorlin Syndrome

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, Francesca Caroppo, Lisa Passaglia, Francesca Boaretto, Leonardo Salviati, Anna Belloni Fortina   +5 more
wiley   +1 more source

Clinical Classification of Mosaicism

JEADV Clinical Practice
The term ‘mosaic skin disorders’ encompasses conditions in which the skin is involved by mosaic mutations, including epidermal nevi, vascular nevi, connective tissue nevi and lipomatous nevi, among others.
Andrea Diociaiuti, Teresa Oranges, Eulalia Baselga, May El Hachem   +3 more
doaj   +1 more source

Cranial osteomyelitis in a patient with KID syndrome: Importance of thorough investigation in chronic wounds

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 5, Page 663-664, May 2026.
Michael Wolfgang Höner, Anabelle Kainz, Cornelia Erfurt‐Berge   +2 more
wiley   +1 more source

Darier’s Disease: A rare genodermatosis

IP Journal of Diagnostic Pathology and Oncology, 2019
Darier’s disease or darier white disease or keratosis follicularis is a rare inherited autosomal dominant genodermatosis which are clinically characterized by multiple hyperpigmented, firm , greasy, warty lesion usually in seborrhoeic distribution. They also show palmar pits, and mucosal involvement.
Divya V, Sudha V
openaire   +1 more source

Birt-Hogg-Dubé Syndrome, a Genodermatosis Associated with Spontaneous Pneumothorax and Kidney Neoplasia, Maps to Chromosome 17p11.2

, 2001
Birt-Hogg-Dubé syndrome (BHD), an inherited autosomal genodermatosis characterized by benign tumors of the hair follicle, has been associated with renal neoplasia, lung cysts, and spontaneous pneumothorax. To identify the BHD locus, we recruited families
Greenberg, Cheryl R., Hewitt, Stephen, Matrosova, Vera, Toro, Jorge R., Turner, Maria L., Schmidt, Laura S., Merino, Maria, Glenn, Gladys, Nickerson, Michael L., Linehan, W. Marston, Zbar, Berton, Warren, Michelle B., Weirich, Gregor, Duray, Paul, Pavlovich, Christian P.   +14 more
core   +1 more source