Results 61 to 70 of about 1,226,922 (193)
Focal dermal hypoplasia, also known as Goltz syndrome, is a rare dominant genodermatosis linked to the X chromosome, which affects ectodermal and mesodermal tissues. It is characterized dermatologically by striae, congenital dermal atrophy with lineal or
Alba, Catherine +3 more
core
Aplasia Cutis Congenita in Bart's Syndrome: A Case Report and Literature Review
ABSTRACT Aplasia cutis congenita (ACC) is a partial or complete absence of skin layers which can be a part of a syndromic disease. Bart's syndrome is a combination of clinical manifestations including ACC, epidermolysis bullosa, blistering in the oral mucosa, nail dystrophy, or congenital absence of nails. Additional anomalies, such as pyloric atresia,
Parvaneh Sadeghimoghadam +4 more
wiley +1 more source
ABSTRACT Objective To characterize the metacarpophalangeal pattern profile (MCPP) of healthy children and adolescents from São Paulo, Brazil, and to establish percentile curves by chronological age (CA), bone age (BA), and sex using the LMS method. Additionally, to compare these findings with previous population‐based data and to apply the derived ...
Marcelo Damaso Maruichi +4 more
wiley +1 more source
Dermal and Ophthalmological Manifestations of Goltz Syndrome in a Four-month-old Female Child: A Case Report [PDF]
Goltz syndrome, also known as Focal Dermal Hypoplasia (FDH), is a rare X-linked dominant genodermatosis characterised by multisystem involvement affecting the skin, skeletal system, eyes, and craniofacial structures.
Ritika Singh +2 more
doaj +1 more source
A 50-year-old single Filipino woman was referred to our clinic by the Dermatology Department due to multiple large nevi on the face. Her history started 29 years prior to consult when a 0.5 cm by 0.5 cm nevus appeared on her right lower eyelid.
Emilaine Balatibat +2 more
doaj +1 more source
Nevoid basal cell carcinoma syndrome
Binkley and Johnson first reported this syndrome in 1951. But it was in 1960, Gorlin-Goltz established the association of basal cell epithelioma, jaw cyst and bifid ribs, a combination which is now frequently known as Gorlin-Goltz syndrome as well as ...
Kannan Karthiga +2 more
doaj
Plaque‐type trichoblastoma and its siblings: A (follicular tumour) family history
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Ines Bertlich +4 more
wiley +1 more source
A rare case of Gorlin–Goltz syndrome
Background The Gorlin–Goltz syndrome (the Nevoid basal cell carcinoma syndrome (NBCCS)) is reviewed as a rare autosomal dominant syndrome caused by gene mutations located on chromosome arm 9 q.
Sara R. Hassan +2 more
doaj +1 more source
Abstract Basal cell carcinoma (BCC) is the most frequent malignancy in fair‐skinned populations. Although curable in most cases, approximately 4% of patients develop locally advanced or metastatic disease (advBCC) requiring systemic therapy. Hedgehog pathway inhibitors (HHIs; vismodegib/sonidegib) constitute standard first‐line treatment, yet ...
Viola K DeTemple +17 more
wiley +1 more source
Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is a rare hereditary autosomal-dominant disorder characterized by multiple basal cell carcinomas in young patients, odontogenic keratocysts, palmar or plantar pits, calcification of the falx ...
Marta Maia Safronova +5 more
doaj +1 more source

