Focal Dermal Hypoplasia Syndrome Clinical Presentation

  • Author: Robert W Goltz, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jul 13, 2010
 

History

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

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Physical

Cutaneous features are as follows:

  • Symmetric, linear, reticulated, frequently tender, pink or red, thin skin is characteristic. Involved areas may be angular, atrophic, slightly raised, or depressed. The lesions generally follow the lines of Blaschko and can be a few millimeters to several centimeters in width. Photograph shows characteristic linear, erythematoPhotograph shows characteristic linear, erythematous, raised and depressed macules that follow the lines of Blaschko. Also note oligodactyly of the hand (entire rays are absent). Characteristic lesions that follow the lines of BlCharacteristic lesions that follow the lines of Blaschko. Close-up view of reticulate, mildly atrophic, erytClose-up view of reticulate, mildly atrophic, erythematous macules and soft, rounded nodules.
  • In pigmented skin, the lesions may be hypopigmented or hyperpigmented rather than erythematous.Hyperpigmentation that follows the lines of BlaschHyperpigmentation that follows the lines of Blaschko on the upper extremity. Slightly raised and pigmented macules and soft tumSlightly raised and pigmented macules and soft tumors are noted on this extremity.
  • Ulcerations, including some cases of cutis verticis gyrata, occur, presumably due to complete absence of dermis at these sites. This is one of several causes of aplasia cutis congenita.
  • Telangiectasias are common.
  • Rarely, inflammation is reported, with vesicular lesions in early postnatal months.
  • 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, focal dermal hypoplasia 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 focal dermal hypoplasia.
  • A striking abnormality is the appearance of raspberrylike papillomas. These papillomas are multiple, often 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 and can be 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 are as follows:

  • 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 are as follows:

  • Asymmetry of the face with mild hemiatrophy may be present.
  • Sparse eyebrows and eyelashes may be observed.
  • Ears 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.Typical facial features are asymmetry of the face Typical facial features are asymmetry of the face with mild hemiatrophy, low-set protruding ears, a narrow nasal bridge, a broad nasal tip with unilateral notch of the nasal alae, and a pointed chin. Also note the reticular hyperpigmentation of the skin, sparse hair, and raspberrylike papillomas on the lips.

Stature is as follows:

  • Patients usually of short stature.
  • Sloping shoulders, truncal and limb asymmetry are observed.

Skeletal features are as follows:

  • Abnormalities are numerous and often severe. The spectrum is variable ranging 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.Characteristic lobster claw deformity. Characteristic lobster claw deformity. Syndactyly. Syndactyly. Image shows oligodactyly of the feet. Also note thImage shows oligodactyly of the feet. Also note the reticular erythematous hyperpigmentation on the limbs.
  • 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 cysts are reported. Giant cell tumors of the bone are osteoclastomas, which express increased levels of the nuclear factor kappaB ligand RANKL, which is regulated by Wnt signaling and essential for osteoclast formation. The aberrant Wnt signaling in focal dermal hypoplasia may disrupt RANKL expression, leading to increased osteoclast activity.[6, 7]
  • Osteopathia striata is a radiographic finding commonly seen (approximately 20% cases) in patients with focal dermal hypoplasia, but it is not a diagnostic feature of focal dermal hypoplasia (see Imaging Studies). 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 are as follows:

  • 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 are as follows:

  • 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 features are as follows:

  • 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
    • Anophthalmia
    • Optic nerve hypoplasia
    • Ectropion
    • Ptosis
    • Photophobia
    • Papillomas at the lid margin or conjunctiva
    • Retinal neovascularization

Oral and dental defects are as follows:

  • 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, and notching of the incisors or extra incisors.
  • Other oral findings include a high-arched palate; double lingual frenulum; cleft lip; cleft palate; absence of a labial sulcus; hypertrophy of the gums; taurodontism; and papillomas of the gums, tongue, palate, and buccal mucosa.

Cardiopulmonary features are as follows:

  • Anomalous pulmonary venous drainage may be present.
  • Mediastinal dextroposition may be observed.

Gastrointestinal features are as follows:

  • Malrotation of the intestine.
  • 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.

Genitourinary findings may include abnormalities of the kidneys or ureters (eg, bifid ureter, renal pelvis), horseshoe kidney, and hypoplastic or absent kidney.

Infection-related features reported include recurrent respiratory infections, cellulitis, conjunctivitis, otitis media, and urinary tract infections. These have been secondary consequences of the organ systems affected; no primary regulatory dysfunction of the immune system has been identified.

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Causes

Studies indicate that focal dermal hypoplasia is usually caused by mutations of the PORCN gene, mapped to locus Xp11.23. At least 24 different mutations have been identified. These include nonsense, missense, and frameshift mutations, as well as abnormal splicing.[9, 10, 11, 12]

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 focal dermal hypoplasia), current analysis implicates that defective/deficient Wnt signaling could affect cell fate or could result in failure of a progenitor cell line to expand. Note the following:

  • 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 focal dermal hypoplasia.
  • Dilated, rough endoplasmic reticulum containing granular material has been observed in focal dermal hypoplasia skin fibroblasts; a correlation to a Wnt protein, however, is yet to be determined.
  • Somatic and germline mutations may occur. No typical genotype/phenotype correlation is recognized. Large deletion mutations are more common in familial cases.
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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.

Specialty Editor Board

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.

David F Butler, MD  Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside 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: Nothing to disclose.

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.

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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Typical facial features are asymmetry of the face with mild hemiatrophy, low-set protruding ears, a narrow nasal bridge, a broad nasal tip with unilateral notch of the nasal alae, and a pointed chin. Also note the reticular hyperpigmentation of the skin, sparse hair, and raspberrylike papillomas on the lips.
Photograph shows characteristic linear, erythematous, raised and depressed macules that follow the lines of Blaschko. Also note oligodactyly of the hand (entire rays are absent).
Photomicrograph shows the histopathologic findings in a skin biopsy sample. The image depicts the characteristic absence of dermal collagen and the accompanying appearance of adipose tissue in the dermis.
Characteristic lobster claw deformity.
Syndactyly.
Image shows oligodactyly of the feet. Also note the reticular erythematous hyperpigmentation on the limbs.
Characteristic lesions that follow the lines of Blaschko.
Hyperpigmentation that follows the lines of Blaschko on the upper extremity.
Slightly raised and pigmented macules and soft tumors are noted on this extremity.
Close-up view of reticulate, mildly atrophic, erythematous macules and soft, rounded nodules.
 
 
 
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