Focal Dermal Hypoplasia Latest Advances

A case of mosaic Goltz syndrome in a male baby: Where persistence pays off.

Journal: JAAD case reports

Published: August 08, 2026

A rare case of Goltz syndrome: Clinical presentation and diagnostic challenges.

Journal: JAAD case reports

Published: June 12, 2026

Goltz-Gorlin Syndrome: A Case Report and Literature Review.

Journal: Cureus

Published: June 09, 2026

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

Journal: Clinical genetics

Published: June 05, 2026

Cleft Lip and Palate is Common in PORCN-Related Focal Dermal Hypoplasia in Asians: Three New Case Reports and Literature Review.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Published: March 16, 2026

Extensive conjunctival papillomatosis in focal dermal hypoplasia.

Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus

Published: November 28, 2025

Focal dermal hypoplasia with clinical features mimicking classic hypohidrotic ectodermal dysplasia and cardiofaciocutaneous syndrome.

Journal: European journal of dermatology : EJD

Published: November 24, 2025

Case of a Male Patient With Focal Dermal Hypoplasia (Goltz Syndrome), Esophageal Polyps, Scoliosis, and Bicuspid Aortic Valve.

Journal: Cureus

Published: November 23, 2025

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

Journal: Clinical case reports

Published: July 13, 2025

Patient with papillomatous lesions.

Journal: JAAD case reports

Published: April 25, 2025

Treatment of a case with short stature and Goltz syndrome with long-acting growth hormone: a case report and follow-up.

Journal: BMC pediatrics

Published: April 21, 2025

A Prenatal Case of Focal Dermal Hypoplasia With Split Hand/Foot Malformation, Lack of Characteristic Skin Findings, Renal Agenesis, and Coloboma Due To a Novel PORCN Variant.

Journal: Prenatal diagnosis

Published: April 11, 2025

Focal Dermal Hypoplasia Latest Advances

Find the Latest Research About Focal Dermal Hypoplasia

A case of mosaic Goltz syndrome in a male baby: Where persistence pays off.

A case of mosaic Goltz syndrome in a male baby: Where persistence pays off.

A rare case of Goltz syndrome: Clinical presentation and diagnostic challenges.

A rare case of Goltz syndrome: Clinical presentation and diagnostic challenges.

Goltz-Gorlin Syndrome: A Case Report and Literature Review.

Goltz-Gorlin Syndrome: A Case Report and Literature Review.

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

Cleft Lip and Palate is Common in PORCN-Related Focal Dermal Hypoplasia in Asians: Three New Case Reports and Literature Review.

Cleft Lip and Palate is Common in PORCN-Related Focal Dermal Hypoplasia in Asians: Three New Case Reports and Literature Review.

Extensive conjunctival papillomatosis in focal dermal hypoplasia.

Extensive conjunctival papillomatosis in focal dermal hypoplasia.

Focal dermal hypoplasia with clinical features mimicking classic hypohidrotic ectodermal dysplasia and cardiofaciocutaneous syndrome.

Focal dermal hypoplasia with clinical features mimicking classic hypohidrotic ectodermal dysplasia and cardiofaciocutaneous syndrome.

Case of a Male Patient With Focal Dermal Hypoplasia (Goltz Syndrome), Esophageal Polyps, Scoliosis, and Bicuspid Aortic Valve.

Case of a Male Patient With Focal Dermal Hypoplasia (Goltz Syndrome), Esophageal Polyps, Scoliosis, and Bicuspid Aortic Valve.

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

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

Patient with papillomatous lesions.

Patient with papillomatous lesions.

Treatment of a case with short stature and Goltz syndrome with long-acting growth hormone: a case report and follow-up.

Treatment of a case with short stature and Goltz syndrome with long-acting growth hormone: a case report and follow-up.

A Prenatal Case of Focal Dermal Hypoplasia With Split Hand/Foot Malformation, Lack of Characteristic Skin Findings, Renal Agenesis, and Coloboma Due To a Novel PORCN Variant.

A Prenatal Case of Focal Dermal Hypoplasia With Split Hand/Foot Malformation, Lack of Characteristic Skin Findings, Renal Agenesis, and Coloboma Due To a Novel PORCN Variant.