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Focal Dermal Hypoplasia

1. Disease Information

2026-06-03
Falcon MONDO:0010592 Model: Edison Scientific Literature 48 citations

1. Disease Information

1.1 Definition/overview

FDH is an X‑linked dominant ectodermal dysplasia with prominent involvement of structures derived from ectoderm and mesoderm, including skin, skeleton/limbs, eyes, teeth, hair, and nails. Clinically, patients often have congenital linear/blaschkoid atrophic skin lesions with pigmentary change and fat herniation, plus variable limb defects (e.g., ectrodactyly/syndactyly) and ocular and dental anomalies. (aoyama2008caseofunilateral pages 1-3, bostwick2019focaldermalhypoplasia pages 1-2)

1.2 Key identifiers

  • MeSH: Focal Dermal Hypoplasia (MeSH ID D005489) (ClinicalTrials.gov condition coding). (NCT00691223 chunk 1, NCT00691223 chunk 2)
  • OMIM/Orphanet/ICD-10/ICD-11/MONDO: Not available in the retrieved full texts and therefore cannot be cited from the current evidence set.

1.3 Synonyms / alternative names

1.4 Evidence source type

The information summarized here is primarily derived from aggregated disease-level resources (e.g., a clinical reference chapter and ClinicalTrials.gov record) and peer-reviewed primary literature (case reports, genetics papers, and mouse model studies), rather than EHR-only individual patient datasets. (NCT00691223 chunk 1, bostwick2019focaldermalhypoplasia pages 2-4, bostwick2019focaldermalhypoplasia pages 1-2)

2. Etiology

2.1 Disease causal factors

Primary cause: Germline or postzygotic pathogenic variants in PORCN (X‑linked). PORCN encodes a membrane-bound O‑acyltransferase that lipidates Wnt ligands in the ER; loss of function disrupts Wnt secretion/signaling and embryonic development of ectodermal and mesenchymal tissues. (clements2009porcngenemutations pages 1-3, barrott2011deletionofmouse pages 3-4)

Direct quote (abstract support, mouse model): Liu et al. state: “FDH is caused by dominant loss-of-function mutations in X-linked PORCN” and Porcn orthologues are “required for secretion and function of Wnt proteins.” (liu2012deletionofporcn pages 1-2)

2.2 Risk factors

  • Sex: Strong female predominance; in one aggregated summary, ~90% of affected individuals are female. (NCT00691223 chunk 1, bostwick2019focaldermalhypoplasia pages 1-2)
  • De novo occurrence: Many cases arise de novo; a ClinicalTrials.gov record summarizes “95% percent of all cases and 100% of male cases appear de novo.” (NCT00691223 chunk 1)

2.3 Protective factors

No protective genetic or environmental factors were identified in the retrieved evidence set.

2.4 Gene–environment interactions

No validated gene–environment interactions specific to FDH were identified in the retrieved evidence set.

3. Phenotypes

3.1 Core clinical features (with frequencies where available)

A curated clinical reference chapter provides quantitative phenotype frequencies (Box 135.1) and emphasizes that diagnosis can be made clinically. (bostwick2019focaldermalhypoplasia pages 2-4, bostwick2019focaldermalhypoplasia media 3094c59b)

Cutaneous (often congenital; Blaschko-linear/segmental): * Linear hypo-/hyperpigmentation (reported 100%). (bostwick2019focaldermalhypoplasia pages 2-4, bostwick2019focaldermalhypoplasia media 3094c59b) * Streaky linear dermal atrophy (94%). (bostwick2019focaldermalhypoplasia pages 2-4, bostwick2019focaldermalhypoplasia media 3094c59b) * Lipomatous lesions/fat herniation (67%). (bostwick2019focaldermalhypoplasia pages 2-4, bostwick2019focaldermalhypoplasia media 3094c59b) Representative histopathology: a thinned dermis with fat extending into superficial dermis. (maymi2007focaldermalhypoplasia pages 1-3)

Limb/skeletal: Common malformations include ectrodactyly/split hand-foot (lobster-claw), oligodactyly, syndactyly, polydactyly, limb asymmetry, and scoliosis. (maymi2007focaldermalhypoplasia pages 1-3, tejani2006focaldermalhypoplasia pages 1-2, bostwick2019focaldermalhypoplasia pages 6-8) * Scoliosis reported ~15–20% in the reference chapter. (bostwick2019focaldermalhypoplasia pages 6-8) * Osteopathia striata on radiographs ~20%. (bostwick2019focaldermalhypoplasia pages 6-8)

Ocular: * Chorioretinal coloboma (61%) and iris coloboma (50%) were reported in the reference chapter diagnostic box. (bostwick2019focaldermalhypoplasia pages 2-4, bostwick2019focaldermalhypoplasia media 3094c59b) Broader ocular phenotype includes microphthalmia, strabismus, cataract, and other defects potentially causing vision loss. (tejani2006focaldermalhypoplasia pages 1-2, aoyama2008caseofunilateral pages 1-3)

Oral/dental: Oral/dental involvement is common and can include enamel hypoplasia, hypodontia/oligodontia, microdontia, taurodontism, delayed/ectopic eruption, oral papillomas, cleft lip/palate, and gingivitis/caries risk. (tejani2006focaldermalhypoplasia pages 1-2, tejani2006focaldermalhypoplasia pages 2-3, bostwick2019focaldermalhypoplasia pages 6-8) * Dental abnormalities are reported ~40% in the reference chapter. (bostwick2019focaldermalhypoplasia pages 6-8)

CNS/neurodevelopment: Neurodevelopment is often normal but can include developmental delay/intellectual disability and seizures; one aggregated record estimates intellectual disability in ~15%. (arlt2022novelinsightsinto pages 2-4, NCT00691223 chunk 1, bostwick2019focaldermalhypoplasia pages 6-8)

3.2 Phenotype characteristics

3.3 Quality-of-life impact

No formal EQ‑5D/SF‑36/PROMIS quality-of-life statistics were identified in the retrieved evidence. However, multiple sources emphasize the need for multidisciplinary care and dental/functional rehabilitation, implying substantial functional and psychosocial impacts, particularly from limb malformations and visible cutaneous/dental differences. (tejani2006focaldermalhypoplasia pages 4-5, tejani2006focaldermalhypoplasia pages 1-1)

3.4 Suggested HPO terms (examples; non-exhaustive)

(maymi2007focaldermalhypoplasia pages 1-3, tejani2006focaldermalhypoplasia pages 1-2, bostwick2019focaldermalhypoplasia pages 2-4)

4. Genetic/Molecular Information

4.1 Causal gene

4.2 Variant spectrum and pathogenic mechanisms

Abstract quote (mechanism): Porcupine (PORCN) “catalyses the addition of monounsaturated palmitate to Wnt proteins and is required for Wnt gradient formation and signalling.” (arlt2022novelinsightsinto pages 2-4)

4.3 Modifier genes / epigenetics

4.4 Suggested GO terms (mechanism-relevant)

5. Environmental Information

No established environmental, lifestyle, or infectious contributors were identified in the retrieved evidence set; FDH is primarily genetic (PORCN-related). (clements2009porcngenemutations pages 1-3, bostwick2019focaldermalhypoplasia pages 1-2)

6. Mechanism / Pathophysiology

6.1 Core causal chain (current understanding)

  1. Upstream trigger: Germline or postzygotic loss-of-function variant/deletion in PORCN. (clements2009porcngenemutations pages 1-3, bostwick2019focaldermalhypoplasia pages 2-4)
  2. Molecular defect: Impaired PORCN-mediated lipidation of Wnt ligands in the ER, preventing proper Wnt secretion and reducing downstream signaling. (clements2009porcngenemutations pages 4-6, barrott2011deletionofmouse pages 3-4)
  3. Developmental consequence: Defective Wnt signaling in ectodermal and mesenchymal lineages disrupts skin/appendage formation, limb patterning, and organ development, producing congenital, often mosaic/segmental malformations. (liu2012deletionofporcn pages 7-8, liu2012deletionofporcn pages 5-7)

6.2 Cellular processes implicated

  • ER/proteostasis and secretion abnormalities have been reported in patient-derived fibroblasts with specific PORCN variants, suggesting additional downstream stress/secretory pathway contributions in some genotypes. (arlt2022novelinsightsinto pages 9-11)

6.3 Suggested Cell Ontology (CL) terms (mechanism-relevant)

7. Anatomical Structures Affected

7.1 Organ and system involvement

7.2 Suggested UBERON terms (examples)

(bostwick2019focaldermalhypoplasia pages 6-8, tejani2006focaldermalhypoplasia pages 1-2)

8. Temporal Development

8.1 Onset

Typically congenital with skin and limb findings present at birth; skin lesions may evolve with age. (aoyama2008caseofunilateral pages 1-3, bostwick2019focaldermalhypoplasia pages 2-4)

8.2 Progression/course

Variable course; skin lesions may persist and/or progress, and papillomas can occur on mucosal sites. Overall lifespan is usually normal in the reference chapter. (bostwick2019focaldermalhypoplasia pages 6-8)

9. Inheritance and Population

9.1 Inheritance

9.2 Epidemiology (statistics available in retrieved evidence)

Population prevalence/incidence (cases per population): Not available in the retrieved evidence set.

10. Diagnostics

10.1 Clinical criteria and supportive pathology/imaging

10.2 Genetic testing strategy (current practice)

10.3 Molecular diagnostic assays (example implementation)

Martínez‑Saucedo et al. describe a low-cost targeted workflow: * High‑resolution melting (HRM) scanning of PORCN exons, followed by Sanger sequencing of abnormal amplicons and ARMS validation. (martinez‐saucedo2020implementationofhigh‐resolution pages 1-2, martinez‐saucedo2020implementationofhigh‐resolution pages 4-6)

10.4 Differential diagnosis

Reported differentials include incontinentia pigmenti and MIDAS syndrome, among other ectodermal dysplasias/congenital malformation syndromes. (aoyama2008caseofunilateral pages 1-3, tejani2006focaldermalhypoplasia pages 4-5)

11. Outcome/Prognosis

No registry-based survival curves or mortality rates were identified in the retrieved evidence.

12. Treatment

12.1 Current applications / real-world implementations (multidisciplinary care)

Management is supportive and tailored to manifestations: * Dermatology/skin care: occlusive dressings, topical antibiotics/moisturizers; local destructive or surgical therapies for papillomas/lesions (excision, cautery, cryotherapy, CO2 laser, pulsed‑dye laser, photodynamic therapy). (bostwick2019focaldermalhypoplasia pages 9-11) * ENT/anesthesia precautions: airway evaluation may be needed given mucosal/airway papillomas; fiberoptic intubation may be considered. (bostwick2019focaldermalhypoplasia pages 9-11) * Orthopedic/plastic surgery: correction of limb malformations such as syndactyly. (zhang2025treatmentofa pages 1-2) * Dental prevention and restoration: fluoride supplementation, fissure sealants, plaque control strategies; restorative/prosthodontic interventions. (tejani2006focaldermalhypoplasia pages 4-5, tejani2006focaldermalhypoplasia pages 3-4)

12.2 Endocrine management example

A 2025 case report described growth hormone deficiency in a child with FDH and reported treatment with long‑acting growth hormone (0.2 mg/kg/week) for 2 years 9 months with an average annual growth of 9.4 cm and no reported side effects during follow-up. (zhang2025treatmentofa pages 2-4)

12.3 Emerging therapies / expert commentary

Mouse models are explicitly cited as enabling investigation of “potential therapies” for postnatal features (e.g., skin defects, papillomas), but no validated disease-modifying therapies were identified in the retrieved evidence set. (liu2012deletionofporcn pages 8-10, bostwick2019focaldermalhypoplasia pages 1-2)

12.4 Suggested MAXO terms (examples)

  • Surgical repair of syndactyly (MAXO concept)
  • Dental restoration / preventive dentistry (MAXO concept)
  • Laser ablation therapy (MAXO concept)
  • Growth hormone therapy (MAXO concept)

13. Prevention

Because FDH is genetic, prevention focuses on genetic counseling and reproductive options. * Molecular diagnosis is emphasized as enabling genetic counseling and (when desired) preimplantation/prenatal diagnosis. (martinez‐saucedo2020implementationofhigh‐resolution pages 4-6)

No primary prevention through environmental modification is established.

14. Other Species / Natural Disease

No naturally occurring FDH-like disease in non-human species was identified in the retrieved evidence set.

15. Model Organisms

15.1 Mouse models (Porcn deletion/inactivation)

Multiple studies show Porcn disruption recapitulates FDH-like phenotypes and maps phenotypes to lineages: * Ectodermal Porcn loss (Krt14‑Cre): thin skin, alopecia/absence of hair follicles, and abnormal dentition. (liu2012deletionofporcn pages 1-2, liu2012deletionofporcn pages 5-7) * Mesenchymal Porcn loss (Prx‑Cre): limb/digit patterning defects resembling severe FDH limb malformations. (liu2012deletionofporcn pages 1-2, liu2012deletionofporcn pages 5-7) * Mechanistic readout: Porcn deletion blocks Wnt ligand secretion and abolishes LEF/TCF reporter activation in cell assays. (barrott2011deletionofmouse pages 3-4)

15.2 Model limitations

Mouse models capture major developmental manifestations but are limited for assessing lifelong outcomes; in one PNAS study, perinatal lethality limited postnatal analysis for some genotypes. (barrott2011deletionofmouse pages 3-4)

Recent developments (prioritizing 2023–2024)

(Important limitation: a potentially key 2024 single-center prevalence/phenotype report was cited in a secondary reference list but was not obtainable in this tool context, so its prevalence estimates cannot be extracted here.) (torreUnknownyeardentalfindingsin pages 7-8)

Clinical trials and real-world studies

  • NCT00691223 (Baylor College of Medicine): “Study of Selected X-linked Disorders: Goltz Syndrome” (observational; Active, not recruiting; enrollment 84). First posted 2007. URL: https://clinicaltrials.gov/study/NCT00691223 (NCT00691223 chunk 1)

Evidence gaps (important for knowledge base curation)

  1. OMIM/Orphanet/ICD-10/ICD-11/MONDO codes were not extractable from the retrieved full texts; additional targeted database retrieval is required for those identifiers.
  2. Population prevalence/incidence (per 100,000) was not available in the retrieved evidence; the current statistics are case-series/literature-based.
  3. Formal QoL instrument results (EQ‑5D/SF‑36/PROMIS) were not found in the retrieved evidence set.

Key URLs (from retrieved sources)

References

  1. (clements2009porcngenemutations pages 1-3): S.E. Clements, J.E. Mellerio, S.T. Holden, J. McCauley, and J.A. McGrath. Porcn gene mutations and the protean nature of focal dermal hypoplasia. British Journal of Dermatology, 160:1103-1109, May 2009. URL: https://doi.org/10.1111/j.1365-2133.2009.09048.x, doi:10.1111/j.1365-2133.2009.09048.x. This article has 49 citations and is from a highest quality peer-reviewed journal.

  2. (bostwick2019focaldermalhypoplasia pages 2-4): MD Bret Bostwick, MD Ignatia B Van den Veyver, and MD Reid Sutton. Focal dermal hypoplasia. Definitions, pages 1706-1717, Nov 2019. URL: https://doi.org/10.1002/9781119142812.ch135, doi:10.1002/9781119142812.ch135. This article has 5 citations.

  3. (bostwick2019focaldermalhypoplasia pages 1-2): MD Bret Bostwick, MD Ignatia B Van den Veyver, and MD Reid Sutton. Focal dermal hypoplasia. Definitions, pages 1706-1717, Nov 2019. URL: https://doi.org/10.1002/9781119142812.ch135, doi:10.1002/9781119142812.ch135. This article has 5 citations.

  4. (NCT00691223 chunk 1): Ignatia Van den Veyver. Study of Selected X-linked Disorders: Goltz Syndrome. Baylor College of Medicine. 2007. ClinicalTrials.gov Identifier: NCT00691223

  5. (aoyama2008caseofunilateral pages 1-3): Masako AOYAMA, Hiroo SAWADA, Yoichi SHINTANI, Iwao ISOMURA, and Akimichi MORITA. Case of unilateral focal dermal hypoplasia (goltz syndrome). The Journal of Dermatology, 35:33-35, Dec 2008. URL: https://doi.org/10.1111/j.1346-8138.2007.00408.x, doi:10.1111/j.1346-8138.2007.00408.x. This article has 23 citations.

  6. (tejani2006focaldermalhypoplasia pages 1-1): Zahra Tejani, Puneet Batra, Carol Mason, and David Atherton. Focal dermal hypoplasia: oral and dental findings. The Journal of clinical pediatric dentistry, 30 1:67-72, Sep 2006. URL: https://doi.org/10.17796/jcpd.30.1.q737147154231251, doi:10.17796/jcpd.30.1.q737147154231251. This article has 33 citations.

  7. (maymi2007focaldermalhypoplasia pages 1-3): María A. Maymí and Rafael F. Martín‐García. Focal dermal hypoplasia with unusual cutaneous features. Pediatric Dermatology, 24:387-390, Jul 2007. URL: https://doi.org/10.1111/j.1525-1470.2007.00455.x, doi:10.1111/j.1525-1470.2007.00455.x. This article has 12 citations and is from a peer-reviewed journal.

  8. (clements2009porcngenemutations pages 6-7): S.E. Clements, J.E. Mellerio, S.T. Holden, J. McCauley, and J.A. McGrath. Porcn gene mutations and the protean nature of focal dermal hypoplasia. British Journal of Dermatology, 160:1103-1109, May 2009. URL: https://doi.org/10.1111/j.1365-2133.2009.09048.x, doi:10.1111/j.1365-2133.2009.09048.x. This article has 49 citations and is from a highest quality peer-reviewed journal.

  9. (clements2009porcngenemutations pages 4-6): S.E. Clements, J.E. Mellerio, S.T. Holden, J. McCauley, and J.A. McGrath. Porcn gene mutations and the protean nature of focal dermal hypoplasia. British Journal of Dermatology, 160:1103-1109, May 2009. URL: https://doi.org/10.1111/j.1365-2133.2009.09048.x, doi:10.1111/j.1365-2133.2009.09048.x. This article has 49 citations and is from a highest quality peer-reviewed journal.

  10. (costanza2023casereportpapillary pages 6-7): Flavia Costanza, Giampaolo Papi, Stefania Corrado, and Alfredo Pontecorvi. Case report: papillary thyroid carcinoma in goltz–gorlin syndrome. Frontiers in Endocrinology, Oct 2023. URL: https://doi.org/10.3389/fendo.2023.1243540, doi:10.3389/fendo.2023.1243540. This article has 4 citations.

  11. (arlt2022novelinsightsinto pages 2-4): Annabelle Arlt, Nicolai Kohlschmidt, Andreas Hentschel, Enrika Bartels, Claudia Groß, Ana Töpf, Pınar Edem, Nora Szabo, Albert Sickmann, Nancy Meyer, Ulrike Schara-Schmidt, Jarred Lau, Hanns Lochmüller, Rita Horvath, Yavuz Oktay, Andreas Roos, and Semra Hiz. Novel insights into porcn mutations, associated phenotypes and pathophysiological aspects. Orphanet Journal of Rare Diseases, Jan 2022. URL: https://doi.org/10.1186/s13023-021-02068-w, doi:10.1186/s13023-021-02068-w. This article has 17 citations and is from a peer-reviewed journal.

  12. (arlt2022novelinsightsinto pages 17-18): Annabelle Arlt, Nicolai Kohlschmidt, Andreas Hentschel, Enrika Bartels, Claudia Groß, Ana Töpf, Pınar Edem, Nora Szabo, Albert Sickmann, Nancy Meyer, Ulrike Schara-Schmidt, Jarred Lau, Hanns Lochmüller, Rita Horvath, Yavuz Oktay, Andreas Roos, and Semra Hiz. Novel insights into porcn mutations, associated phenotypes and pathophysiological aspects. Orphanet Journal of Rare Diseases, Jan 2022. URL: https://doi.org/10.1186/s13023-021-02068-w, doi:10.1186/s13023-021-02068-w. This article has 17 citations and is from a peer-reviewed journal.

  13. (tejani2006focaldermalhypoplasia pages 1-2): Zahra Tejani, Puneet Batra, Carol Mason, and David Atherton. Focal dermal hypoplasia: oral and dental findings. The Journal of clinical pediatric dentistry, 30 1:67-72, Sep 2006. URL: https://doi.org/10.17796/jcpd.30.1.q737147154231251, doi:10.17796/jcpd.30.1.q737147154231251. This article has 33 citations.

  14. (maymi2007focaldermalhypoplasia pages 3-4): María A. Maymí and Rafael F. Martín‐García. Focal dermal hypoplasia with unusual cutaneous features. Pediatric Dermatology, 24:387-390, Jul 2007. URL: https://doi.org/10.1111/j.1525-1470.2007.00455.x, doi:10.1111/j.1525-1470.2007.00455.x. This article has 12 citations and is from a peer-reviewed journal.

  15. (tejani2006focaldermalhypoplasia pages 4-5): Zahra Tejani, Puneet Batra, Carol Mason, and David Atherton. Focal dermal hypoplasia: oral and dental findings. The Journal of clinical pediatric dentistry, 30 1:67-72, Sep 2006. URL: https://doi.org/10.17796/jcpd.30.1.q737147154231251, doi:10.17796/jcpd.30.1.q737147154231251. This article has 33 citations.

  16. (tejani2006focaldermalhypoplasia pages 2-3): Zahra Tejani, Puneet Batra, Carol Mason, and David Atherton. Focal dermal hypoplasia: oral and dental findings. The Journal of clinical pediatric dentistry, 30 1:67-72, Sep 2006. URL: https://doi.org/10.17796/jcpd.30.1.q737147154231251, doi:10.17796/jcpd.30.1.q737147154231251. This article has 33 citations.

  17. (martinez‐saucedo2020implementationofhigh‐resolution pages 1-2): Mirna Martínez‐Saucedo, Carolina Ornelas‐Fuentes, Mark Dedden, Rocío Sánchez‐Urbina, Héctor Díaz‐García, Guillermo Aquino‐Jarquin, Rodrigo Moreno‐Salgado, and Javier T. Granados‐Riveron. Implementation of high‐resolution melting analysis of the porcupine (porcn) gene for molecular diagnosis of focal dermal hypoplasia: identification of a novel mutation. The Journal of Gene Medicine, Feb 2020. URL: https://doi.org/10.1002/jgm.3165, doi:10.1002/jgm.3165. This article has 2 citations.

  18. (martinez‐saucedo2020implementationofhigh‐resolution pages 4-6): Mirna Martínez‐Saucedo, Carolina Ornelas‐Fuentes, Mark Dedden, Rocío Sánchez‐Urbina, Héctor Díaz‐García, Guillermo Aquino‐Jarquin, Rodrigo Moreno‐Salgado, and Javier T. Granados‐Riveron. Implementation of high‐resolution melting analysis of the porcupine (porcn) gene for molecular diagnosis of focal dermal hypoplasia: identification of a novel mutation. The Journal of Gene Medicine, Feb 2020. URL: https://doi.org/10.1002/jgm.3165, doi:10.1002/jgm.3165. This article has 2 citations.

  19. (martinez‐saucedo2020implementationofhigh‐resolution pages 6-7): Mirna Martínez‐Saucedo, Carolina Ornelas‐Fuentes, Mark Dedden, Rocío Sánchez‐Urbina, Héctor Díaz‐García, Guillermo Aquino‐Jarquin, Rodrigo Moreno‐Salgado, and Javier T. Granados‐Riveron. Implementation of high‐resolution melting analysis of the porcupine (porcn) gene for molecular diagnosis of focal dermal hypoplasia: identification of a novel mutation. The Journal of Gene Medicine, Feb 2020. URL: https://doi.org/10.1002/jgm.3165, doi:10.1002/jgm.3165. This article has 2 citations.

  20. (arlt2022novelinsightsinto pages 13-15): Annabelle Arlt, Nicolai Kohlschmidt, Andreas Hentschel, Enrika Bartels, Claudia Groß, Ana Töpf, Pınar Edem, Nora Szabo, Albert Sickmann, Nancy Meyer, Ulrike Schara-Schmidt, Jarred Lau, Hanns Lochmüller, Rita Horvath, Yavuz Oktay, Andreas Roos, and Semra Hiz. Novel insights into porcn mutations, associated phenotypes and pathophysiological aspects. Orphanet Journal of Rare Diseases, Jan 2022. URL: https://doi.org/10.1186/s13023-021-02068-w, doi:10.1186/s13023-021-02068-w. This article has 17 citations and is from a peer-reviewed journal.

  21. (tejani2006focaldermalhypoplasia pages 3-4): Zahra Tejani, Puneet Batra, Carol Mason, and David Atherton. Focal dermal hypoplasia: oral and dental findings. The Journal of clinical pediatric dentistry, 30 1:67-72, Sep 2006. URL: https://doi.org/10.17796/jcpd.30.1.q737147154231251, doi:10.17796/jcpd.30.1.q737147154231251. This article has 33 citations.

  22. (zhang2025treatmentofa pages 1-2): Jinghui Zhang, Nana Qiao, and Xiaochun Li. Treatment of a case with short stature and goltz syndrome with long-acting growth hormone: a case report and follow-up. BMC Pediatrics, Oct 2025. URL: https://doi.org/10.1186/s12887-025-06129-y, doi:10.1186/s12887-025-06129-y. This article has 0 citations and is from a peer-reviewed journal.

  23. (zhang2025treatmentofa pages 2-4): Jinghui Zhang, Nana Qiao, and Xiaochun Li. Treatment of a case with short stature and goltz syndrome with long-acting growth hormone: a case report and follow-up. BMC Pediatrics, Oct 2025. URL: https://doi.org/10.1186/s12887-025-06129-y, doi:10.1186/s12887-025-06129-y. This article has 0 citations and is from a peer-reviewed journal.

  24. (NCT00691223 chunk 2): Ignatia Van den Veyver. Study of Selected X-linked Disorders: Goltz Syndrome. Baylor College of Medicine. 2007. ClinicalTrials.gov Identifier: NCT00691223

  25. (barrott2011deletionofmouse pages 3-4): Jared J. Barrott, Gabriela M. Cash, Aaron P. Smith, Jeffery R. Barrow, and L. Charles Murtaugh. Deletion of mouse porcn blocks wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/goltz syndrome. Proceedings of the National Academy of Sciences, 108:12752-12757, Jul 2011. URL: https://doi.org/10.1073/pnas.1006437108, doi:10.1073/pnas.1006437108. This article has 231 citations and is from a highest quality peer-reviewed journal.

  26. (liu2012deletionofporcn pages 1-2): Wei Liu, Timothy M. Shaver, Alfred Balasa, M. Cecilia Ljungberg, Xiaoling Wang, Shu Wen, Hoang Nguyen, and Ignatia B. Van den Veyver. Deletion of porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (goltz syndrome). PLoS ONE, 7:e32331, Mar 2012. URL: https://doi.org/10.1371/journal.pone.0032331, doi:10.1371/journal.pone.0032331. This article has 77 citations and is from a peer-reviewed journal.

  27. (bostwick2019focaldermalhypoplasia media 3094c59b): MD Bret Bostwick, MD Ignatia B Van den Veyver, and MD Reid Sutton. Focal dermal hypoplasia. Definitions, pages 1706-1717, Nov 2019. URL: https://doi.org/10.1002/9781119142812.ch135, doi:10.1002/9781119142812.ch135. This article has 5 citations.

  28. (bostwick2019focaldermalhypoplasia pages 6-8): MD Bret Bostwick, MD Ignatia B Van den Veyver, and MD Reid Sutton. Focal dermal hypoplasia. Definitions, pages 1706-1717, Nov 2019. URL: https://doi.org/10.1002/9781119142812.ch135, doi:10.1002/9781119142812.ch135. This article has 5 citations.

  29. (liu2012deletionofporcn pages 7-8): Wei Liu, Timothy M. Shaver, Alfred Balasa, M. Cecilia Ljungberg, Xiaoling Wang, Shu Wen, Hoang Nguyen, and Ignatia B. Van den Veyver. Deletion of porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (goltz syndrome). PLoS ONE, 7:e32331, Mar 2012. URL: https://doi.org/10.1371/journal.pone.0032331, doi:10.1371/journal.pone.0032331. This article has 77 citations and is from a peer-reviewed journal.

  30. (liu2012deletionofporcn pages 5-7): Wei Liu, Timothy M. Shaver, Alfred Balasa, M. Cecilia Ljungberg, Xiaoling Wang, Shu Wen, Hoang Nguyen, and Ignatia B. Van den Veyver. Deletion of porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (goltz syndrome). PLoS ONE, 7:e32331, Mar 2012. URL: https://doi.org/10.1371/journal.pone.0032331, doi:10.1371/journal.pone.0032331. This article has 77 citations and is from a peer-reviewed journal.

  31. (arlt2022novelinsightsinto pages 9-11): Annabelle Arlt, Nicolai Kohlschmidt, Andreas Hentschel, Enrika Bartels, Claudia Groß, Ana Töpf, Pınar Edem, Nora Szabo, Albert Sickmann, Nancy Meyer, Ulrike Schara-Schmidt, Jarred Lau, Hanns Lochmüller, Rita Horvath, Yavuz Oktay, Andreas Roos, and Semra Hiz. Novel insights into porcn mutations, associated phenotypes and pathophysiological aspects. Orphanet Journal of Rare Diseases, Jan 2022. URL: https://doi.org/10.1186/s13023-021-02068-w, doi:10.1186/s13023-021-02068-w. This article has 17 citations and is from a peer-reviewed journal.

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