ArticleCase reports in dermatology
Unilateral Focal Dermal Hypoplasia (Goltz Syndrome): Case Report and Literature Review.
Article in Case reports in dermatology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 18 citations in OpenAlex.
- A Long-Term Follow-Up of a Patient with a NovelMolecular syndromology · 2024Article
- Dentofacial manifestations of a Paediatric patient with Goltz-Gorlin Syndrome.BMJ case reports · 2024Article
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- Focal Dermal Hypoplasia with Osteopathia Striata.Medical archives (Sarajevo, Bosnia and Herzegovina) · 2022Article
- Focal Dermal Hypoplasia (Goltz Syndrome): A Case Report Showing a Wide Variety of Systemic and Oral Manifestations.Annals of dermatology · 2022Article
- A Rare Case of Mainly Unilateral Focal Dermal Hypoplasia (Goltz Syndrome) in an Adult Male: A Case Report and Review of the Literature.Journal of medical cases · 2020Article
- Cutaneous Features of Adams-Oliver Syndrome: Diagnosis, Differentiation, and Management.Pediatric dermatologyReview
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Focal dermal hypoplasia (FDH) or Goltz syndrome is a rare X-linked dominant multisystemic disease involving the ectoderm, mesoderm, and endoderm. About 95% of the cases appear de novo, and 90% of them are females. Recently, the studies revealed that FDH is caused by a mutation in the PORCN gene. We report a case of unilateral FDH or Goltz syndrome in a 16-year-old girl presenting with hypopigmented-reticulated atrophic macules and patches in a linear pattern distributed along the lines of Blaschko over the right side of the face and the right arm. Also she is having hypoplasia of the right breast with dental enamel abnormality and partial anodontia in the lower jaw. Sparse hair and partial alopecia on the right side (scalp, eyebrows, and eyelashes) were also observed.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.