Years published: 1992, 1998, 2006, 2013, 2016, 2019, 2023
NORD gratefully acknowledges Kristina Bundra, NORD Editorial Intern, and V. Reid Sutton, MD, Professor, Department of Molecular & Human Genetics, Baylor College of Medicine/Texas Chidlren’s Hospital, for assistance in the preparation of this report.
Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare multisystem disorder that principally involves the development of the skin, hands and feet and eyes. It is a type of ectodermal dysplasia, a group of heritable disorders causing the hair, teeth, nails and glands to develop and function abnormally. Most of the cases of FDH (about 90 percent) are seen in females. This disorder is characterized by skin abnormalities that develop into streaks or lines of tumor-like lumps on various parts of the body. This syndrome displays a wide array of symptoms and may affect almost any organ. FDH is caused by changes (variants or mutations) or duplications/deletions in the PORCN gene.
An extremely wide range of symptoms characterizes FDH.
FDH is a rare disorder that primarily affects females and has extreme variability. It is characterized by skin lesions that look streaked, underdeveloped or “punched-out”, birth defects of the hands and feet and birth defects of the eyes. There may be inflammation, itching, reddening, blistering and crusting of the skin. Skin may be thinned, discolored or lack color (pigmentation) in some areas. The nails may be absent or appear abnormal. Enlargement of capillaries/veins under the skin (telangectasias) often develop with age. Wart-like growth (papillomas) are usually not present at birth but develop with age and are typically found on the gums, tongue, lips, nose, genetalia and anus. All individuals with focal dermal hypoplasia have at least a few of the skin abnormalities. The hair may be sparse, brittle and/or missing.
Eye differences are common and are present at birth and can include drooping eyelids (ptosis); clouding of the cornea; a cleft or keyhole-shaped defect in the iris or the retina (colobmas); small or missing eye (microphthalmia/anophthalmia); wide spacing between the eyes (hypertelorism); crossed eyes (strabismus) and/or exposure of the lining of the eyelid (ectropion).
Individuals with FDH may also have a variety of skeletal abnormalities, some of which may be present at birth. Curvature of the spine (scoliosis), fused vertebrae, underdeveloped or missing fingers or toes, extra fingers or toes (polydactyly), fingers or toes that have grown together (syndactyly), fingers that bend to the side (clinodactyly), permanently bent fingers (camptodactyly) and/or fusion of bones of the fingers and toes may be present. Other malformations of the skeleton may include a small skull, an underdeveloped jaw, a forward projection of the jaw, and/or uneven development of the face, limbs or trunk. Cleft lip and palate may be present and may cause feeding, breathing and vision problems.
Problems within the mouth are seen in more than 50 percent of patients affected. Failure of the teeth to develop properly often occurs in these patients. The teeth may be missing or underdeveloped and are unusually small or improperly spaced. Missing enamel may result in the development of cavities.
Abnormalities of the ears, the eyes, the heart, central nervous system, gastrointestinal system and the kidneys may also be present. Abnormalities within the gastrointestinal system may lead to problems with breathing and feeding. Intellectual disability can be found in some patients. Most patients with FDH are noted to be small at birth and have mild short stature.
FDH is caused by changes (variants or mutations) in the PORCN gene that creates proteins important in the development of the skin, skeleton and eyes in a developing embryo and fetus. Recent studies of patients with symptoms consistent with FDH have found genetic changes in the PORCN gene in nearly all affected females.
The PORCN gene is found on the X chromosome and the syndrome is inherited in an X-linked dominant pattern. X-linked dominant disorders are caused by an abnormal gene on the X chromosome and occur mostly in females. Females with these rare conditions are affected when they have an X chromosome with the gene for a particular disease. Males with an abnormal gene for an X-linked dominant disorder are more severely affected than females and often do not survive. Living males with FDH are “mosaic” for a change in the PORCN gene. This means that the change is seen in some, but not all, of the cells in their body.
Prevalence estimates are not available for FDH. Approximately 200 to 300 affected individuals have been reported worldwide, and only about 10 percent are live born males.
Diagnosis is based on clinical findings and affected individuals are usually recognized at birth. DNA testing for the PORCN gene is available to confirm the diagnosis.
Clinical Testing and Workup
The diagnosis of focal dermal hypoplasia should be considered in patients with either of the following: multiple skin manifestations or one typical skin manifestation in addition to characteristic limb malformations. To better establish the extent of the disease and the treatment of the patient diagnosed, the following evaluations are often recommended: chest x-ray, eye exams, abdominal MRI, kidney ultrasound, hearing evaluation and medical genetics consultation.
Treatment for patients with focal dermal hypoplasia is directed at the symptoms. Dermatological creams and protective dressings may relieve skin discomfort and prevent secondary infections. Dentures and hearing aids may be required. Heat and over-exercise should be avoided. Limb deformities may be treated with occupational therapy, assistive devices or surgery. Surgical or laser therapy may be recommended for patients demonstrating trouble swallowing due to large fat deposits in the throat.
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Bostwick B, Sutton VR, Van den Veyver IB. Focal Dermal Hypoplasia In: Irvine AD, Hoeger PH and Yan AC, eds. Harper’s Textbook of Paediatric Dermatology 4th edition Wiley-Blackwell, 2019
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Bostwick B, Fang P, Patel A, Sutton VR. Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals. Am J Med Genet C Semin Med Genet. 2016 Mar;172(1):9-20. doi: 10.1002/ajmg.c.31473. Epub 2016 Feb 7.
Bree AF, Grange DK, Hicks MJ, Goltz RW. Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). Am J Med Genet C Semin Med Genet. 2016 Mar;172(1):44-51. doi: 10.1002/ajmg.c.31472. Epub 2016 Feb 9.
Smith A, Hunt TR 3rd. The orthopedic characterization of Goltz syndrome. Am J Med Genet C Semin Med Genet. 2016 Mar;172(1):41-3. doi: 10.1002/ajmg.c.31470. Epub 2016 Feb 11.
Wright JT, Puranik CP, Farrington F. Oral phenotype and variation in focal dermal hypoplasia. Am J Med Genet C Semin Med Genet. 2016 Mar;172(1):52-8. doi: 10.1002/ajmg.c.31478. Epub 2016 Feb 3.
Deidrick KK, Early M, Constance J, Stein M, Fete T. Cognitive and psychological functioning in focal dermal hypoplasia. Am J Med Genet C Semin Med Genet. 2016 Mar;172(1):34-40. doi: 10.1002/ajmg.c.31471. Epub 2016 Jan 28.
Sutton VR. PORCN-Related Developmental Disorders. 2008 May 15 [Updated 2023 Jun 15]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1543 Accessed August 23, 2023.
McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Focal Dermal Hypoplasia. Entry Number; 305600: Last Update: 06/17/2022. Available at: http://omim.org/entry/305600 Accessed August 23, 2023.
Goltz RW. Focal Dermal Hypoplasia Syndrome. Medscape Reference. Last Update: June 24, 2019. Available at: http://emedicine.medscape.com/article/1110936-overview Accessed August 23, 2023.
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