Focal Dermal Hypoplasia Syndrome Treatment & Management

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

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.

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Surgical Care

Surgical management of focal dermal hypoplasia 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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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.

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

  2. Goltz RW. Focal dermal hypoplasia. Pediatr Dermatol. Dec 1990;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. Jan 1970;101(1):1-11. [Medline].

  4. Goltz RW, Peterson WC, Gorlin RJ, Ravits HG. Focal dermal hypoplasia. Arch Dermatol. Dec 1962;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. Grzeschik KH, Bornholdt D, Oeffner F, et al. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat Genet. Jul 2007;39(7):833-5. [Medline].

  7. 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. Jul 2007;39(7):836-8. [Medline].

  8. 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.

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

  10. 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. Jan 2008;49(1):39-42. [Medline].

  11. Clements SE, Mellerio JE, Holden ST, McCauley J, McGrath JA. PORCN gene mutations and the protean nature of focal dermal hypoplasia. Br J Dermatol. May 2009;160(5):1103-9. [Medline].

  12. Maas SM, Lombardi MP, van Essen AJ, et al. Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome. J Med Genet. Oct 2009;46(10):716-20. [Medline].

  13. Alster TS, Wilson F. Focal dermal hypoplasia (Goltz's syndrome). Treatment of cutaneous lesions with the 585-nm flashlamp-pumped pulsed dye laser. Arch Dermatol. Feb 1995;131(2):143-4. [Medline].

  14. Ballabio A. MLS, Aicardi and Goltz syndromes: how many genes involved?. Am J Med Genet. Oct 23 1995;59(1):100. [Medline].

  15. Buchner SA, Itin P. Focal dermal hypoplasia syndrome in a male patient. Report of a case and histologic and immunohistochemical studies. Arch Dermatol. Aug 1992;128(8):1078-82. [Medline].

  16. Burgdorf WH, Dick GF, Soderberg MD, Goltz RW. Focal dermal hypoplasia in a father and daughter. J Am Acad Dermatol. Mar 1981;4(3):273-7. [Medline].

  17. 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.

  18. del Carmen Boente M, Asial RA, Winik BC. Focal dermal hypoplasia: ultrastructural abnormalities of the connective tissue. J Cutan Pathol. Feb 2007;34(2):181-7. [Medline].

  19. Derks B, Gericke GS, Louw M. Focal dermal hypoplasia (Goltz syndrome): case reports. S Afr Med J. Jul 1 1978;54(1):27-9. [Medline].

  20. Feinberg A, Menter MA. Focal dermal hypoplasia (Goltz syndrome) in a male. A case report. S Afr Med J. Mar 27 1976;50(14):554-5. [Medline].

  21. Fjellner B. Focal dermal hypoplasia in a 46, XY male. Int J Dermatol. Dec 1979;18(10):812-5. [Medline].

  22. Ghiggeri GM, Caridi G, Altieri P, Pezzolo A, Gimelli G, Zuffardi O. Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus?. Hum Genet. Mar 1993;91(2):175-7. [Medline].

  23. Gorski JL. Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: support for X-linked inheritance and paternal X chromosome mosaicism. Am J Med Genet. Sep 1 1991;40(3):332-7. [Medline].

  24. Gottlieb SK, Fisher BK, Violin GA. Focal dermal hypoplasia. A nine-year follow-up study. Arch Dermatol. Oct 1973;108(4):551-3. [Medline].

  25. Gunduz K, Gunalp I, Erden I. Focal dermal hypoplasia (Goltz's syndrome). Ophthalmic Genet. Sep 1997;18(3):143-9. [Medline].

  26. Hall EH, Terezhalmy GT. Focal dermal hypoplasia syndrome. Case report and literature review. J Am Acad Dermatol. Sep 1983;9(3):443-51. [Medline].

  27. Happle R, Daniels O, Koopman RJ. MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome. Am J Med Genet. Oct 1 1993;47(5):710-3. [Medline].

  28. Happle R, Lenz W. Striation of bones in focal dermal hypoplasia: manifestation of functional mosaicism?. Br J Dermatol. Feb 1977;96(2):133-5. [Medline].

  29. Hardman CM, Garioch JJ, Eady RA, Fry L. Focal dermal hypoplasia: report of a case with cutaneous and skeletal manifestations. Clin Exp Dermatol. Nov 1998;23(6):281-5. [Medline].

  30. Harmsen MB, Azzarello-Burri S, Garcia Gonzalez MM, et al. Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. Eur J Hum Genet. Oct 2009;17(10):1207-15. [Medline].

  31. Holden JD, Akers WA. Goltz's syndrome: focal dermal hypoplasia. A combined mesoectodermal dysplasia. Am J Dis Child. Sep 1967;114(3):292-300. [Medline].

  32. Howell JB, Freeman RG. Cutaneous defects of focal dermal hypoplasia: an ectomesodermal dysplasia syndrome. J Cutan Pathol. Oct 1989;16(5):237-58. [Medline].

  33. Howell JB, Reynolds J. Osteopathia striata. A diagnostic osseous marker of focal dermal hypoplasia. Trans St Johns Hosp Dermatol Soc. 1974;60(2):178-82. [Medline].

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

  35. Kanitakis J, Souillet AL, Butnaru C, Claudy A. Melanocyte stimulation in focal dermal hypoplasia with unusual pigmented skin lesions: a histologic and immunohistochemical study. Pediatr Dermatol. May-Jun 2003;20(3):249-53. [Medline].

  36. Kerr R. Goltz syndrome. Br Dent J. Nov 10 2001;191(9):477. [Medline].

  37. Lee IJ, Cha MS, Kim SC, Bang D. Electronmicroscopic observation of the basement membrane zone in focal dermal hypoplasia. Pediatr Dermatol. Jan-Feb 1996;13(1):5-9. [Medline].

  38. Lindsay EA, Grillo A, Ferrero GB, et al. Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. Am J Med Genet. Jan 15 1994;49(2):229-34. [Medline].

  39. McNamara T, Trotman CA, Russell KA. Gorlin-Goltz: what's in a name?. Spec Care Dentist. Mar-Apr 1998;18(2):84-7. [Medline].

  40. Menni S, Boccardi D, Imondi D. Focal dermal hypoplasia: a case with minor clinical manifestations. Acta Derm Venereol. May 1998;78(3):235-6. [Medline].

  41. Mevorah B, Politi Y. Genodermatoses in women. Clin Dermatol. Jan-Feb 1997;15(1):17-29. [Medline].

  42. Mianda SB, Delmaestro D, Bertoli R, Marinho T, Lucas E. Focal dermal hypoplasia with exuberant fat herniations and skeletal deformities. Pediatr Dermatol. Sep-Oct 2005;22(5):420-3. [Medline].

  43. Moog U, Kruger G, Stengel B, et al. Oculocerebrocutaneous syndrome: a case report, a follow-up, and differential diagnostic considerations. Genet Couns. 1996;7(4):257-65. [Medline].

  44. Mucke J, Happle R, Theile H. MIDAS syndrome respectively MLS syndrome: a separate entity rather than a particular lyonization pattern of the gene causing Goltz syndrome. Am J Med Genet. May 22 1995;57(1):117-8. [Medline].

  45. Naritomi K, Izumikawa Y, Nagataki S, et al. Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome?. Am J Med Genet. Jul 15 1992;43(5):839-43. [Medline].

  46. Orlow SJ, Watsky KL, Bolognia JL. Skin and bones. I. J Am Acad Dermatol. Aug 1991;25(2 Pt 1):205-21. [Medline].

  47. Paller AS. Piecing together the puzzle of cutaneous mosaicism. J Clin Invest. Nov 2004;114(10):1407-9. [Medline]. [Full Text].

  48. Paller AS. Wnt signaling in focal dermal hypoplasia. Nat Genet. Jul 2007;39(7):820-1. [Medline].

  49. Patel JS, Maher ER, Charles AK. Focal dermal hypoplasia (Goltz syndrome) presenting as a severe fetal malformation syndrome. Clin Dysmorphol. Jul 1997;6(3):267-72. [Medline].

  50. Pessoa VE, Surana RB. Focal dermal hypoplasia. J Natl Med Assoc. Jan 1979;71(1):69-70. [Medline]. [Full Text].

  51. Ruiz-Maldonado R, Carnevale A, Tamayo L, Milonas de Montiel M. Focal dermal hypoplasia. Clin Genet. 1974;6(1):36-45. [Medline].

  52. Ryan SG, Chance PF, Zou CH, Spinner NB, Golden JA, Smietana S. Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing. Nat Genet. Sep 1997;17(1):92-5. [Medline].

  53. Sacoor MF, Motswaledi MH. Three cases of focal dermal hypoplasia (Goltz syndrome). Clin Exp Dermatol. Jan 2005;30(1):35-7. [Medline].

  54. Sato M, Ishikawa O, Yokoyama Y, Kondo A, Miyachi Y. Focal dermal hypoplasia (Goltz syndrome): a decreased accumulation of hyaluronic acid in three-dimensional culture. Acta Derm Venereol. Sep 1996;76(5):365-7. [Medline].

  55. Selzer G, David R, Revach M, Cvibah TJ, Fried A. Goltz syndrome with multiple giant-cell tumor-like lesions in bones. A case report. Ann Intern Med. Jun 1974;80(6):714-7. [Medline].

  56. Seven M, Suyugul Z, Yuksel A, Geckinli B, Hacihanefioglu S, Cenani A. A family presenting Goltz syndrome (focal dermal hypoplasia) in three generations. Turk J Pediatr. Oct-Dec 1998;40(4):593-601. [Medline].

  57. Stephen LX, Behardien N, Beighton P. Focal dermal hypoplasia: management of complex dental features. J Clin Pediatr Dent. Summer 2001;25(4):259-61. [Medline].

  58. Temple IK, Hurst JA, Hing S, Butler L, Baraitser M. De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies. J Med Genet. Jan 1990;27(1):56-8. [Medline]. [Full Text].

  59. Temple IK, MacDowall P, Baraitser M, Atherton DJ. Focal dermal hypoplasia (Goltz syndrome). J Med Genet. Mar 1990;27(3):180-7. [Medline]. [Full Text].

  60. Terashi H, Kurata S, Hashimoto H, et al. A case of Goltz syndrome presenting as congenital incomplete alopecia. J Dermatol. Feb 1994;21(2):122-4. [Medline].

  61. Terezhalmy GT, Moore WS, Bsoul SA, Flint DJ. Focal dermal hypoplasia (Goltz-Gorlin syndrome). Quintessence Int. Oct 2002;33(9):706-7. [Medline].

  62. Toro-Sola MA, Kistenmacher ML, Punnett HH, DiGeorge AM. Focal dermal hypoplasia symdrome in a male. Clin Genet. Apr 1975;7(4):325-7. [Medline].

  63. Valerius NH. A case of focal dermal hypoplasia syndrome (Goltz) with bilateral cheilo-gnatho-palatoschisis. Acta Paediatr Scand. Mar 1974;63(2):287-8. [Medline].

  64. Van den Veyver IB. Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders?. Cytogenet Genome Res. 2002;99(1-4):289-96. [Medline].

  65. Van den Veyver IB, Cormier TA, Jurecic V, Baldini A, Zoghbi HY. Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22. Genomics. Jul 15 1998;51(2):251-61. [Medline].

  66. Warburg M. Focal dermal hypoplasia. Ocular and general manifestations with a survey of the literature. Acta Ophthalmol (Copenh). 1970;48(3):525-36. [Medline].

  67. Wechsler MA, Papa CM, Haberman F, Marion RW. Variable expression in focal dermal hypoplasia. An example of differential X-chromosome inactivation. Am J Dis Child. Mar 1988;142(3):297-300. [Medline].

  68. Wettke-Schafer R, Kantner G. X-linked dominant inherited diseases with lethality in hemizygous males. Hum Genet. 1983;64(1):1-23. [Medline].

  69. Willetts GS. Focal dermal hypoplasia. Br J Ophthalmol. Jun 1974;58(6):620-4. [Medline]. [Full Text].

  70. Zuffardi O, Caiulo A, Maraschio P, et al. Regional assignment of the loci for adenylate kinase to 9q32 and for alpha 1-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in region 9q32-qter?. Hum Genet. Apr 1989;82(1):17-9. [Medline].

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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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