Medical Care

Regular surveillance, with frequency increased as needed during and after adolescence, facilitates early detection of anomalies and timely preventative and/or corrective treatment planning in focal dermal hypoplasia (FDH) patients.

Medical management is targeted toward the various soft-tissue, dental, and skeletal anomalies, with the goal of achieving optimal functional and aesthetic results. Treatment with a flashlamp-pumped pulse dye laser may ameliorate the pruritic symptoms that sometimes are noted in affected skin, and it may improve the clinical appearance of the telangiectatic and erythematous skin lesions.^[29]

Surgical Care

Surgical management of focal dermal hypoplasia (FDH) is targeted toward the various soft-tissue, dental, and skeletal anomalies, with the goal of achieving optimal functional and aesthetic results. Periorificial fibrovascular papillomas may continue to appear during adulthood; these papillomas require repeated surgical intervention.

Consultations

Consultations may include the following:

Dermatologist (care for painful and pruritic erosive lesions that are prone to infection)
Gastroenterologist and nutritionist (evaluation and management of the esophagus regarding gastroesophageal disease [GERD]) ^[30]
Geneticist
Otolaryngologist (evaluation and management of large papillomas of the larynx and/or trachea)
Oral surgeon/dentist
Ophthalmologist
Orthopedist
Plastic surgeon
Physical therapist and occupational therapist (management of hand and foot malformations)
Pediatric gynecologist

Long-Term Monitoring

Variable disease expression of focal dermal hypoplasia (FDH) may delay the initial diagnosis. Clinical follow-up with evidence of phenotypic evolution can assist in making a definitive diagnosis.

Surveillance may include the following:

Routine follow up with a dermatologist
Routine evaluations for scoliosis, particularly in individuals with costovertebral segmentation abnormalities
Routine monitoring of growth and body composition to determine need for nutritional intervention
Regular eye examinations
Routine screening for cognitive, emotional, behavioral, and adaptive issues.

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Wang X, Reid Sutton V, Omar Peraza-Llanes J, et al. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet. 2007 Jul. 39(7):836-8. [QxMD MEDLINE Link].
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Grzeschik KH, Bornholdt D, Oeffner F, et al. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat Genet. 2007 Jul. 39(7):833-5. [QxMD MEDLINE Link].
Wang X, Reid Sutton V, Omar Peraza-Llanes J, et al. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet. 2007 Jul. 39(7):836-8. [QxMD MEDLINE Link].
Bornholdt D, Oeffner F, Konig A, Happle R. PORCN mutations in focal dermal hypoplasia: coping with lethality. Human Mutation. Oct 2009. 30(10):1472-3.
Garavelli L, Simonte G, Rosato S, Wischmeijer A, Albertini E, Guareschi E, et al. Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly. Am J Med Genet A. 2013 Jul. 161A(7):1750-4. [QxMD MEDLINE Link].
Froyen G, Govaerts K, Van Esch H, et al. Novel PORCN mutations in focal dermal hypoplasia. Clin Genet. 2009 Dec. 76(6):535-43. [QxMD MEDLINE Link].
Clements SE, Wessagowit V, Lai-Cheong JE, Arita K, McGrath JA. Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene. J Dermatol Sci. 2008 Jan. 49(1):39-42. [QxMD MEDLINE Link].
Clements SE, Mellerio JE, Holden ST, McCauley J, McGrath JA. PORCN gene mutations and the protean nature of focal dermal hypoplasia. Br J Dermatol. 2009 May. 160(5):1103-9. [QxMD MEDLINE Link].
Maas SM, Lombardi MP, van Essen AJ, et al. Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome. J Med Genet. 2009 Oct. 46(10):716-20. [QxMD MEDLINE Link].
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Houge G, Oeffner F, Grzeschik KH. An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation. Eur J Hum Genet. 2008 Sep. 16(9):1027-8. [QxMD MEDLINE Link].
Smigiel R, Jakubiak A, Lombardi MP, et al. Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature. Am J Med Genet A. 2011 May. 155A(5):1102-5. [QxMD MEDLINE Link].
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Media Gallery

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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Author

Wasim Haidari Clinical Research Fellow, Center for Dermatology Research, Wake Forest University School of Medicine; MD Candidate, Georgetown University School of Medicine

Disclosure: Nothing to disclose.

Coauthor(s)

William W Huang, MD, MPH, FAAD Associate Professor and Residency Program Director, Department of Dermatology, Wake Forest Baptist Health, Wake Forest University School of Medicine

William W Huang, MD, MPH, FAAD is a member of the following medical societies: American Academy of Dermatology, Association of Professors of Dermatology, Dermatology Foundation, Medical Dermatology Society, North Carolina Medical Society, Women's Dermatologic Society

Disclosure: Research PI for Sponsored Trial for: Gilead; Genentech;.

Specialty Editor Board

David F Butler, MD Former Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Association of Military Dermatologists, Phi Beta Kappa, Texas Dermatological Society

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, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Leslie Castelo-Soccio, MD, PhD Assistant Professor of Pediatrics and Dermatology, The Children's Hospital of Philadelphia

Leslie Castelo-Soccio, MD, PhD is a member of the following medical societies: American Academy of Dermatology, Society for Pediatric Dermatology

Disclosure: Nothing to disclose.

Acknowledgements

Robert W Goltz, MD Professor Emeritus, University of Minnesota Medical School, University of California, San Diego, School of Medicine

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.

Wendy Lee, MD Assistant Professor of Dermatology, Department of Dermatology, Uniformed Services University of Health Sciences

Wendy Lee is a member of the following medical societies: American Academy of Dermatology and American Society of Dermatopathology

Disclosure: Nothing to disclose.