Results 61 to 70 of about 1,226,922 (193)

Síndrome de Goltz [PDF]

open access: yes, 2019
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

open access: yesClinical Case Reports, Volume 14, Issue 4, April 2026.
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

The Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature

open access: yesAmerican Journal of Human Biology, Volume 38, Issue 2, February 2026.
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]

open access: yesJournal of Clinical and Diagnostic Research
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

Gorlin-Goltz Syndrome: Multiple Basal Cell Carcinoma, Bifid Rib, Palmar and Plantar Pits in a 50-Year-Old Woman

open access: yesPhilippine Journal of Otolaryngology Head and Neck Surgery, 2020
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

open access: yesIndian Journal of Dental Research, 2006
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

open access: yes
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Ines Bertlich   +4 more
wiley   +1 more source

A rare case of Gorlin–Goltz syndrome

open access: yesThe Egyptian Journal of Radiology and Nuclear Medicine
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

Alcian blue‐positive stromal phenotype in basal cell carcinoma is associated with progression on first‐line hedgehog inhibitors

open access: yesThe Journal of Pathology: Clinical Research, Volume 12, Issue 1, January 2026.
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

Síndrome de Gorlin-Goltz: revisão das características neurorradiológicas e maxilofaciais ilustradas com dois casos.

open access: yesActa Médica Portuguesa, 2010
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

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