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Focal Dermal Hypoplasia
Abstract
Three patients having a remarkable congenital decrease in the connective tissues of the skin have been reported under the title of focal dermal hypoplasia. This defect appears as linear areas of thinning of the skin and herniations of adipose tissue in the form of yellowish papules. This anomaly seems always to be accompanied by a number of other defects of ectodermal and mesodermal tissues and may represent only one part of a syndrome. The relationships of this syndrome to congenital poikiloderma of Thomson's type, to nevus lipomatosus cutaneous superficialis, and to a number of other congenital cutaneous defects have been discussed. It is concluded that because of clinical and microscopic differences the syndrome characterized by focal dermal hypoplasia is separate from these other conditions.
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Focal dermal hypoplasia is an X-linked dominant disorder caused by deletions in the PORCN gene, which is required for the secretion of WNT proteins.
“Also known as Goltz syndrome or Goltz–Gorlin syndrome,[37] FDH is an X-linked dominant disorder that is caused by deletions in the porcupine O-acyltransferase gene (PORCN), which is required for the secretion of WNT proteins.[38]”
From Ectodermal Dysplasia – An Overview and Update (2024) · cites this paper as [37]
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Mutation update for the PORCN gene
Lombardi, M. P., Bulk, S., Celli, J., Lampe, A., Gabbett, M. T., Ousager, L. B., van der Smagt, J. J., Soller, M., Stattin, E.-L., Mannens, M. A. M. M., et al. (2011) · Human Mutation · doi:10.1002/humu.21505 · Cited by 72
Ectodermal Dysplasia – An Overview and Update
Dev, A., Malhi, K., & Mahajan, R. (2024) · Indian Dermatology Online Journal · doi:10.4103/idoj.idoj_599_23 · Cited by 19
“Also known as Goltz syndrome or Goltz–Gorlin syndrome, [37] FDH is an X‑linked dominant disorder that is caused by deletions in the porcupine O‑acyltransferase gene ( PORCN ), which is required for the secretion of WNT proteins.”
Background
Metadata
- Authors
- GOLTZ, R. W.
- Corresponding author
- GOLTZ, ROBERT W.
- Venue
- Archives of Dermatology
- Publisher
- American Medical Association (AMA)
- Published
- 1962-12-01
- Volume
- 86
- Issue
- 6
- Pages
- 708
- ISSN
- 0003-987X (ISSN-L)
- OpenAlex
- W2044471761
- Cited by
- 342
- References
- 0
- Citations by year
- 2026: 6 · 2025: 6 · 2024: 8 · 2023: 4 · 2022: 8 · 2021: 8 · 2020: 6 · 2019: 12 · 2018: 12 · 2017: 7 · 2016: 13 · 2015: 4 · 2014: 9 · 2013: 10 · 2012: 8
- FWCI
- 1.41
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Archives of Dermatology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Dermatology › Genetic and rare skin diseases.
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Health Sciences › Dentistry › General Dentistry › dental development and anomalies
- Keywords
- focal dermal hypoplasia, congenital skin defects, ectodermal anomalies, nevus lipomatosus cutaneous superficialis, skin thinning, syndromes
- MeSH terms
- Dermatology, Focal Dermal Hypoplasia, Humans
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