eMedicine Specialties > Dermatology > Pediatric Diseases

Focal Dermal Hypoplasia Syndrome

Author: Robert W Goltz, MD, Professor Emeritus, University of Minnesota, University of California San Diego
Contributor Information and Disclosures

Updated: Jul 30, 2008

Introduction

Background

Focal dermal hypoplasia (FDH) is an uncommon genetic disorder characterized by distinctive skin abnormalities and a wide variety of defects that affect the eyes; teeth; and skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems. It is usually, but not always, X-linked dominant (lethal in males). The mnemonic FOCAL can be used to remember some of the key features of this syndrome: female sex; osteopathia striata; coloboma; absent ectodermis-, mesodermis-, and neurodermis-derived elements; and lobster claw deformity. FDH is also known as Goltz syndrome or Goltz-Gorlin syndrome. These eponyms should not to be confused with Gorlin syndrome or Gorlin-Goltz syndrome, which is basal cell nevus syndrome. FDH is identified as entry #305600 in the Online Mendelian Inheritance of Man database.

Affected individuals are often recognized at birth or occasionally prenatally, but cases involving a minor expression of the syndrome may be diagnosed later in life.

The following Medscape resource centers may be of interest:

Pathophysiology

FDH genetic defect has been identified as a mutation in the PORCN gene on the X chromosome. (Even though the biochemical functions of the human PORCN gene are not well characterized, PORCN is known to target Wnt signaling proteins that are key regulators of embryonic development.) Of FDH cases, 90% occur in females, and the variability in the severity of expression is due to the random X-chromosome inactivation (lyonization1 ). This results in functional mosaicism with anomalies of the skin and bone following the lines of Blaschko. Approximately 10% cases occur in males; postzygotic  somatic mosaicism accounts for the findings in these affected males. Postzygotic somatic mosaicism is also postulated for the sporadic female cases with negative family pedigree analysis.

Frequency

United States

FDH is an uncommon disorder.

International

FDH is an uncommon but not rare disorder. Worldwide, 200-300 cases are reported, and new cases continue to be reported. The exact incidence and prevalence are unknown.

Mortality/Morbidity

  • Severely affected individuals die in infancy; family pedigree analysis shows a high incidence of miscarriages and stillbirths.
  • Those with minor expression can expect to have a normal life span; however, the associated presence and degree of affected organ systems impact an individual's morbidity.

Race

All races are affected.

Sex

FDH occurs predominantly in females. It is X-linked dominant with male lethality in utero. A small number of male patients have been reported. Rarely, father-to-daughter transmission occurs.

Age

This condition is present at birth.

Clinical

History

FDH derives its name from the characteristic skin changes. Lesions are present at birth, but they may progress and evolve over time.

Physical

  • Skin features  
    • Symmetric, linear, reticulated, frequently tender, pink or red, thin skin is characteristic. Involved areas may be angular, atrophic, slightly raised, or depressed macules. The lesions generally follow the lines of Blaschko and can be a few millimeters to several centimeters in width.
    • In pigmented skin, the lesions may be hypopigmented or hyperpigmented instead of erythematous.
    • Ulcerations, including some cases of cutis verticis gyrata, occur, presumably due to complete absence of dermis at these sites.
    • Telangiectasias are common.
    • Rarely, inflammation is reported with vesicular lesions.
    • Skin lesions may appear anywhere on the body; they are prominent on the legs (especially the thighs), the forearms, and the cheeks (where lines radiate from the angles of the mouth).  
      • In mild cases, FDH involves only limited, sometimes unilateral, areas of skin.
      • In severe cases, all areas of the body are involved.
    • The dermis may be totally or partially replaced by accumulations of adipose cells, which appear as striking hernialike outpouchings of fatty tissue; this feature is unique to FDH.
    • A striking abnormality is the appearance of raspberrylike papillomas.  
      • These papillomas are multiple, arising at junctions between the mucosa and the skin (ie, perioral, perivulvar, perianal, periocular junctions). Less commonly, the ears (pinnae and external auditory canal), fingers and toes, groin, umbilicus, gums, and base of the tongue are involved.
      • Such papillomas may cause obstruction in the larynx, esophagus, and stomach.
      • New papillomas may continue to appear throughout childhood and into adulthood.
      • Not infrequently, these lesions are mistaken for warts.
      • One case report described lentigolike pigmented macules occurring at the periphery of atrophic skin lesions and periorificial papillomas. These lesions have been described to develop progressively during adolescence and do not follow the lines of Blaschko.
  • Cutaneous adnexal features  
    • Apocrine nevi, multiple hydrocystomas, hypohidrosis, and anhidrosis are occasional features.
    • Scalp and body hair is usually sparse, and the hair may be brittle. Complete absence of hair on the scalp or pubic area is reported. Sparse eyebrows and eyelashes have also been observed.
    • A variety of nail abnormalities occur, such as atrophy, dystropy, spooning, and grooving; they often accompany skeletal abnormalities.
  • Facial abnormalities  
    • Asymmetry of the face with mild hemiatrophy may be noted.
    • Sparse eyebrows and eyelashes may be observed.
    • Ears are low set, protruding, and sometimes asymmetric.
    • A narrow nasal bridge and a broad nasal tip with a unilateral notch of the nasal alae may be present.
    • The chin is commonly pointed.
  • Stature  
    • Patients are usually of short stature.
    • Sloping shoulders are observed.
    • Truncal and limb asymmetry are observed.
  • Skeletal features  
    • Abnormalities are numerous and often severe. The spectrum is variable and ranges from short stature to aplasia of the bones with complete or partial absence of an extremity. Syndactyly is reported in 60% of the cases.
    • Split hands and feet, claw hands, clinodactyly, adactyly, polydactyly, oligodactyly, and syndactyly are common.
    • Abnormal vertebrae with kyphoscoliosis, sloped shoulders, abnormal clavicles and ribs, spina bifida occulta, hypoplasia of the pelvic bones, and generalized osteopenia may be present.
    • Multiple bone lesions that resemble giant cell tumors, osteochondromas, and vertebral bone cysts2 are reported.
    • Osteopathia striata is a radiographic finding commonly seen (approximately 20% cases) in patients with FDH, but it is not a diagnostic feature of FDH (see Imaging Studies).3,4   
      • When osteopathia striata occurs as an isolated finding, with no associations, it is known as Voorhoeve disease. This is an asymptomatic finding that is often an incidental radiologic finding.
      • Osteopathia striata can be associated with other skeletal disorders, such as the autosomal dominant genodermatosis Buschke-Ollendorf syndrome, in which the striations are associated with the mottling of bones (ie, osteopoikilosis). Osteopathia striata can also be associated with bone condensation and osteopetrosis.
  • Central nervous system features  
    • Mental impairment is not uncommon; however, the severity of the cutaneous lesions is not correlated with central nervous system involvement. Normal mentation is noted in many otherwise severely affected individuals.
    • Diffuse cortical cerebellar atrophy can occur with microcephaly, postencephalitic cysts, and meningomyelocele with congenital hydrocephalus.
    • Seizures are rare.
  • Aural features  
    • Malformation, protrusion, and asymmetry of the ears may be noted.
    • Auricular appendages and hypoplasia of the helix may be observed.
    • Cholesteatoma may be observed.
    • Neurosensory and conductive hearing loss may be noted.
    • Cochlear dysplasia may be present.
    • Papillomas may be observed in or near the ear canal.
    • The auditory nerve may be affected.
  • Ocular features5   
    • Ocular abnormalities are present in 40% of cases. Colobomata have been reported in one third of cases, and, less frequently, microphthalmia, strabismus, nystagmus, and ectopia lentis. Other findings reported include the following:  
      • Heterochromia
      • Irregularity of the pupils
      • Aniridia
      • Colobomas of the iris, choroid, retina, or optic disc
      • Corneal defects
      • Cloudiness of the vitreous
      • Blue sclerae
      • Blockage of the tear ducts with tearing
      • Widely spaced eyes
      • Anophthalmia6
      • Optic nerve hypoplasia
      • Ectropion
      • Ptosis
      • Photophobia
      • Papillomas at the lid margin or conjunctiva
      • Retinal neovascularization7
  • Oral and dental defects8,9,10   
    • A variety of oral and dental defects include prognathism, overbite, agenesis or dysplasia of the teeth, delayed tooth formation/eruption, microdontia, irregular spacing and malocclusion, enamel defects,1 and notching of the incisors or extra incisors.
    • Other oral findings include a high-arched palate; double lingual frenulum; cleft lip; cleft palate11 ; absence of a labial sulcus; hypertrophy of the gums; taurodontism12 ; and papillomas of the gums, tongue, palate, and buccal mucosa.
  • Cardiopulmonary features  
    • Anomalous pulmonary venous drainage may be present.
    • Mediastinal dextroposition may be observed.
  • Gastrointestinal features  
    • Malrotation of the intestine may be observed.13
    • Papillomatous lesions of the esophagus can lead to obstruction, gastric polyps, gastric reflux with laxity of the hiatus, diaphragmatic hernia, and omphalocele.
    • Hernias, rectal prolapse, and perianal papillomas may be observed.
  • Genitourinary: Abnormalities of the kidneys or ureters (eg, bifid ureter, renal pelvis), horseshoe kidney, and hypoplastic or absent kidney can be present.
  • Infection-related features: Recurrent respiratory infections, cellulitis, conjunctivitis, otitis media, and urinary tract infections are reported. These have been secondary consequences of the organ systems affected; no primary regulatory dysfunction of the immune system has been identified.

Causes

Studies indicate that FDH is usually caused by mutations of the PORCN gene, mapped to locus Xp11.23.14,15,16

  • PORCN, a member of the porcupine (PORC) gene family, encodes transmembrane endoplasmic reticulum proteins that target Wnt signaling proteins. Wnt proteins are key regulators of embryonic development.
  • Even though biochemical functions of the human PORCN gene are not well characterized (and therefore Wnt-independent signaling may be involved in the phenotypic expression of FDH), current analysis implicates that defective/deficient Wnt signaling could affect cell fate or could result in failure of a progenitor cell line to expand.14,15   
    • Drosophila melanogaster porcupine and its mouse homologue PORCN gene encode transmembrane bound endoplasmic reticulum proteins needed for the secretion of Wnt (Wingless and INT-1) proteins. (In Drosophila melanogaster, the PORCN gene is involved in the processing of the wingless protein.)
    • Investigators have detected embryonic mouse expression of PORCN in cartilage, primordia of long bones and digits, calvaria, the facial skeleton, molar tooth buds, the petrous part of the temporal bone, as well as affecting developing skin of the anterior body wall and limbs; and in the developing cerebral cortex and retina. These findings correlate with the developmental defects seen in persons with FDH.
    • Dilated, rough endoplasmic reticulum containing granular material has been observed in FDH skin fibroblasts; a correlation to a Wnt protein, however, is yet to be determined.

More on Focal Dermal Hypoplasia Syndrome

Overview: Focal Dermal Hypoplasia Syndrome
Differential Diagnoses & Workup: Focal Dermal Hypoplasia Syndrome
Treatment & Medication: Focal Dermal Hypoplasia Syndrome
Follow-up: Focal Dermal Hypoplasia Syndrome
Multimedia: Focal Dermal Hypoplasia Syndrome
References
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References

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Further Reading

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Keywords

FDH, Goltz's syndrome, Goltz syndrome, Goltz-Gorlin syndrome, #MIM305600

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Contributor Information and Disclosures

Author

Robert W Goltz, MD, Professor Emeritus, University of Minnesota, University of California San Diego
Robert W Goltz, MD is a member of the following medical societies: American Academy of Dermatology, American Dermatological Association, American Medical Association, American Society of Dermatopathology, California Medical Association, and Pacific Dermatologic Association
Disclosure: Nothing to disclose.

Medical Editor

Bernice R Krafchik, MBChB, FRCPC, Professor Emeritus, Department of Pediatrics, Section of Dermatology, University of Toronto
Bernice R Krafchik, MBChB, FRCPC is a member of the following medical societies: American Academy of Dermatology, American Dermatological Association, Canadian Medical Association, College of Physicians and Surgeons of Ontario, Royal College of Physicians and Surgeons of Canada, and Society for Pediatric Dermatology
Disclosure: Nothing to disclose.

Pharmacy Editor

David F Butler, MD, Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Scott and White Clinic; Director Dermatology Residency Training Program, Scott and White Clinic
David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa
Disclosure: 3M Pharmaceutical Grant/research funds Other; Graceway Pharmaceuticals Grant/research funds Other

Managing Editor

Edward F Chan, MD, Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania School of Medicine
Edward F Chan, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, and Society for Investigative Dermatology
Disclosure: Nothing to disclose.

CME Editor

Glen H Crawford, MD, Assistant Clinical Professor, Department of Dermatology, University of Pennsylvania School of Medicine; Chief, Division of Dermatology, The Pennsylvania Hospital
Glen H Crawford, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Phi Beta Kappa, and Society of USAF Flight Surgeons
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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