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Focal Dermal Hypoplasia Syndrome Treatment & Management

  • Author: Leslie Castelo-Soccio, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Feb 19, 2016
 

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.[24]

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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.

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Consultations

Consultations may include the following:

  • Dermatologist
  • Geneticist
  • Oral surgeon/dentist
  • Ophthalmologist
  • Orthopedist
  • Plastic surgeon
  • Gastroenterologist and nutritionist
  • Physical therapist and occupational therapist
  • Pediatric gynecologist
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Contributor Information and Disclosures
Author

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.

Specialty Editor Board

David F Butler, MD 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: American Medical Association, Alpha Omega Alpha, Association of Military Dermatologists, American Academy of Dermatology, American Society for Dermatologic Surgery, American Society for MOHS Surgery, 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, 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.

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.

References
  1. Goltz RW. Focal dermal hypoplasia syndrome. An update. Arch Dermatol. 1992 Aug. 128(8):1108-11. [Medline].

  2. Goltz RW. Focal dermal hypoplasia. Pediatr Dermatol. 1990 Dec. 7(4):313-4. [Medline].

  3. Goltz RW, Henderson RR, Hitch JM, Ott JE. Focal dermal hypoplasia syndrome. A review of the literature and report of two cases. Arch Dermatol. 1970 Jan. 101(1):1-11. [Medline].

  4. Goltz RW, Peterson WC, Gorlin RJ, Ravits HG. Focal dermal hypoplasia. Arch Dermatol. 1962 Dec. 86:708-17. [Medline].

  5. Gorlin RJ, Meskin LH, Peterson WC Jr, Goltz RW. Focal dermal hypoplasia syndrome. Acta Derm Venereol. 1963. 43:421-40. [Medline].

  6. 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. [Medline].

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  9. 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. [Medline].

  10. 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.

  11. 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. [Medline].

  12. Fete TJ, Fete M. International research symposium on Goltz syndrome. Am J Med Genet C Semin Med Genet. 2016 Feb 1. 9999:1-4. [Medline].

  13. Peters T, Perrier R, Haber RM. Focal dermal hypoplasia: report of a case with myelomeningocele, Arnold-Chiari malformation and hydrocephalus with a review of neurologic manifestations of goltz syndrome. Pediatr Dermatol. 2014 Mar. 31(2):220-4. [Medline].

  14. Froyen G, Govaerts K, Van Esch H, et al. Novel PORCN mutations in focal dermal hypoplasia. Clin Genet. 2009 Dec. 76(6):535-43. [Medline].

  15. 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. [Medline].

  16. 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. [Medline].

  17. 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. [Medline].

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  19. Blinkenberg EO, Brendehaug A, Sandvik AK, Vatne O, Hennekam RC, Houge G. Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12. Eur J Hum Genet. 2007 May. 15(5):543-7. [Medline].

  20. 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. [Medline].

  21. 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. [Medline].

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  25. Cantrell JR, Haller JA, Ravitsch MA. A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium and heart. Surg Gynecol Obstet. 1958. 107:602-14.

  26. Jessner M. Falldemonstration Breslauer dermatologische verinigung. Arch Dermatol Syph. 1921. 133:48.

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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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