Focal Dermal Hypoplasia

Focal Dermal Hypoplasia

National Organization for Rare Disorders, Inc.


It is possible that the main title of the report Focal Dermal Hypoplasia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


  • Combined Mesoectodermal Dysplasia
  • DHOF
  • Ectodermal and Mesodermal Dysplasia with Osseous Involvement
  • Ectodermal and Mesodermal Dysplasia, Congenital
  • FDH
  • Focal Dermal Dysplasia Syndrome
  • Focal Dermato-Phalangeal Dysplasia
  • FODH
  • Goltz Syndrome
  • Goltz-Gorlin Syndrome

Disorder Subdivisions

  • None

General Discussion

Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare skin disorder that can also affect bone and eye development. If is a type of ectodermal dysplasia, a group of heritable disorders causing the hair, teeth, nails, and glands to develop and function abnormally. Most cases (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. In 2007, scientists at Baylor College of Medicine identified the gene that accounts for most cases of this disorder.


Focal dermal hypoplasia is a rare disorder characterized by skin lesions that look streaked, underdeveloped or "punched-out". Deposits of fat (papillomas) are typically found on the gums, tongue, lips, vulvae and anus. There may be inflammation, itching, reddening, blistering and crusting of the skin. Skin may be absent, discolored or lack pigmentation (color) in some areas. Overgrowth of tissue may be found on the palms of the hands and soles of the feet. Excessive sweating (hyperhidrosis) or absence of sweating (hypohydrosis) is often present on the palms of the hands and soles of the feet. The hair may be sparse, brittle and/or missing.

Eye abnormalities that have been found in some patients with FDH are: drooping eyelids (ptosis); clouding of the cornea; a cleft along the edge of the eyeball (colobmas, involuntary rapid movement of the eye (nystagmus); absence of an eye (anophthalmia), wide spacing between the eyes; more than one color within the iris (heterochromia); dislocation of the lens; crossed eyes (strabismus); and/or exposure of the lining of the eyelid (ectropion).

Patients with FDH may also have a variety of skeletal abnormalities. Curvature of the spine, 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.

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 aid 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. Mental retardation can be found in some instances. An extremely wide range of symptoms characterizes FDH, making it difficult to diagnose.


In June 2007, research funded in part by the National Institutes of Health led to the identification of the gene that accounts for most cases of focal dermal hypoplasia. The gene is known as PORCN, and it creates proteins important in the development of the skin, skeleton, and eyes in a developing embryo and fetus. The researchers believe mutations in the PORCN gene cause at least 75 percent of the cases of focal dermal hypoplasia. This research was conducted at the Baylor College of Medicine.

The gene is found on the X chromosome, and the syndrome is believed to be a dominant X-linked trait. Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22, and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered. For example, "chromosome 11p13" refers to band 13 on the short arm of chromosome 11. The numbered bands specify the location of the thousands of genes that are present on each chromosome.

Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.

X-linked dominant disorders are also caused by an abnormal gene on the X chromosome, but in these rare conditions, females with an abnormal gene are affected with the disease. Males with an abnormal gene are more severely affected than females, and many of these males do not survive.

Affected Populations

It is thought that focal dermal hypoplasia when expressed fully is lethal to male fetuses. As a result, of the 200 to 300 cases reported worldwide, only about 10 percent are living males.

Standard Therapies


Affected babies are usually recognized at birth. It is possible for them to be recognized prenatally but there are no definitive prenatal tests for the disorder.


Treatment for patients with focal dermal hypoplasia is directed at the symptoms. Dermatological creams may relieve skin discomfort. Dentures and hearing aids may be required. Heat and over-exercise should be avoided. Limb deformities may be treated with surgery.

Genetic counseling may be of benefit for patients and their families.

Investigational Therapies

The identification of the genetic mutation associated with most cases of this syndrome was an important step in understanding and eventually treating the condition.

The study was lead jointly by Xiaoling Wang, Department of Obstetrics and Gynecology at Baylor College of Medicine, and V. Reid Sutton, Department of Molecular and Human Genetics at Baylor College of Medicine.

More information on current clinical trials is posted on the Internet at All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.

For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010


For information about clinical trials sponsored by private sources, contact:

The National Foundation for Ectodermal Dysplasias (NFED) sponsors research on ectodermal dysplasias. For information on current and completed studies, contact NFED (see the Resources section of this report.

Information on current clinical trials is posted on the Internet at All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010


For information about clinical trials sponsored by private sources, contact:



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Rosen SA, Bocklage T, Clericuzio CL. Mucocutaneous squamous papilloma with reactive lymphoid hyperplasia in two patients with focal dermal hypoplasia. Pediatr Dev Pathol. 2005;8:250-52.

Sacoor MF, Motswaledi MH. Three cases of focal dermal hypoplasia (Goltz syndrome). Clin Exp Dermatol. 2005;30:35-37.

Loguercio Leite JC, Faermann R, Rodrigues Stein N, et al. Focal dermal hyperplasia associated with split sternum - Goltz syndrome. Clin Dysmorphol. 2005;14:37-39.

Ogunbiyi AO, Adewole IO, Ogunleye O, et al. Focal dermal hyperplasia: a case report and review of the literature. West Afr J Med. 2003;22:346-49.

Van den Veyver IB. Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they X-linked dominant male-lethal disorders. Cytogenet Genome Res. 2002;99:289-96.

Fryssira H, Papathanassiou M, Barbounaki J, et al. A male with polysyndactyly, linear skin defects and sclerocornea. Goltz syndrome versus MIDAS. Clin Dysmorphol. 2002;11:277-81.

Hancock S, Pryde P, Fong C, et al. Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution. Am J Med Genet. 2002;110:370-79.


McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Focal Dermal Hypoplasia. Entry Number; 305600: Last Edit Date; 3/17/2004.

Lee W, Goltz RW. Focal Dermal Hypoplasia Syndrome. Last Updated: February 10, 2005. 18pp.

Goltz-Gorlin Syndrome. Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndrome. Jablonski's Syndromes Database. nd. 5pp.


National Foundation for Ectodermal Dysplasias

6 Execuitive Drive

Suite 2

Fairview Hiights, IL 62208

Tel: (618)566-2020

Fax: (618)566-4718



NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse

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Bethesda, MD 20892-3675


Tel: (301)495-4484

Fax: (301)718-6366

Tel: (877)226-4267

TDD: (301)565-2966



NIH/National Institute of Dental and Craniofacial Research

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31 Center Drive, MSC 2290

Bethesda, MD 20892


Tel: (301)496-4261

Fax: (301)480-4098

Tel: (866)232-4528



Anophthalmia/Microphthalmia Registry

Albert Einstein Medical Center

5501 Old York Rd

Genetics Levy 2 West

Philadelphia, PA 19141

Tel: (215)456-8722

Fax: (215)456-2356



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223


Ectodermal Dysplasia Society

Unit 1 Maida Vale Business Centre




England, GL53 7ER

United Kingdom

Tel: 4401242261332

Tel: 4407805775703



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