eMedicine Specialties > Dermatology > Pediatric Diseases
Focal Dermal Hypoplasia Syndrome: Treatment & Medication
Updated: Jul 30, 2008
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
- Multimedia
Treatment
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.
Medical management is targeted toward the various soft-tissue, dental,22 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.23
Surgical Care
Surgical management 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.
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 |
| « Previous Page | Next Page » |
References
Balmer R, Cameron AC, Adès L, Aldred MJ. Enamel defects and Lyonization in focal dermal hypoplasia. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. Dec 2004;98(6):686-91. [Medline].
D'Alise MD, Timmons CF, Swift DM. Focal dermal hypoplasia (Goltz syndrome) with vertebral solid aneurysmal bone cyst variant. A case report. Pediatr Neurosurg. 1996;24(3):151-4. [Medline].
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].
Knockaert D, Dequeker J. Osteopathia striata and focal dermal hypoplasia. Skeletal Radiol. 1979;4(4):223-7. [Medline].
Thomas JV, Yoshizumi MO, Beyer CK, Craft JL, Albert DM. Ocular manifestations of focal dermal hypoplasia syndrome. Arch Ophthalmol. Nov 1977;95(11):1997-2001. [Medline].
Marcus DM, Shore JW, Albert DM. Anophthalmia in the focal dermal hypoplasia syndrome. Arch Ophthalmol. Jan 1990;108(1):96-100. [Medline].
Dunlop AA, Harper JI, Hamilton AM. Retinal neovascularisation in Goltz syndrome (focal dermal hypoplasia). Br J Ophthalmol. Sep 1999;83(9):1094. [Medline].
Al-Ghamdi K, Crawford PJ. Focal dermal hypoplasia -- oral and dental findings. Int J Paediatr Dent. Mar 2003;13(2):121-6. [Medline].
Tejani Z, Batra P, Mason C, Atherton D. Focal dermal hypoplasia: oral and dental findings. J Clin Pediatr Dent. Fall 2005;30(1):67-72. [Medline].
Ureles SD, Needleman HL. Focal dermal hypoplasia syndrome (Goltz syndrome): the first dental case report. Pediatr Dent. Sep 1986;8(3):239-44. [Medline].
Ascherman JA, Knowles SL, Troutman KC. Extensive facial clefting in a patient with Goltz syndrome: multidisciplinary treatment of a previously unreported association. Cleft Palate Craniofac J. Jul 2002;39(4):469-73. [Medline].
McNamara T, Trotman CA, Hahessy AM, Kavanagh P. Focal dermal hypoplasia (Goltz-Gorlin) syndrome with taurodontism. Spec Care Dentist. Jan-Feb 1996;16(1):26-8. [Medline].
Irvine AD, Stewart FJ, Bingham EA, Nevin NC, Boston VE. Focal dermal hypoplasia (Goltz syndrome) associated with intestinal malrotation and mediastinal dextroposition. Am J Med Genet. Mar 29 1996;62(3):213-5. [Medline].
Grzeschik KH, Bornholdt D, Oeffner F, König A, del Carmen Boente M, Enders H, 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].
Paller AS. Wnt signaling in focal dermal hypoplasia. Nat Genet. Jul 2007;39(7):820-1. [Medline].
Wang X, Reid Sutton V, Omar Peraza-Llanes J, Yu Z, Rosetta R, Kou YC, 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].
Happle R, Daniëls 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].
Mücke 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].
Moog U, Krüger G, Stengel B, De Die-Smulders C, Dykstra S, Bleeker-Wagemakers E. Oculocerebrocutaneous syndrome: a case report, a follow-up, and differential diagnostic considerations. Genet Couns. 1996;7(4):257-65. [Medline].
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].
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].
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].
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].
Ballabio A. MLS, Aicardi and Goltz syndromes: how many genes involved?. Am J Med Genet. Oct 23 1995;59(1):100. [Medline].
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].
Büchner 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].
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].
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].
Fjellner B. Focal dermal hypoplasia in a 46, XY male. Int J Dermatol. Dec 1979;18(10):812-5. [Medline].
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].
Goltz RW. Focal dermal hypoplasia syndrome. An update. Arch Dermatol. Aug 1992;128(8):1108-11. [Medline].
Goltz RW. Focal dermal hypoplasia. Pediatr Dermatol. Dec 1990;7(4):313-4. [Medline].
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].
Goltz RW, Peterson WC, Gorlin RJ, Ravits HG. Focal dermal hypoplasia. Arch Dermatol. Dec 1962;86:708-17. [Medline].
Gorlin RJ, Meskin LH, Peterson WC Jr, Goltz RW. Focal dermal hypoplasia syndrome. Acta Derm Venereol. 1963;43:421-40. [Medline].
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].
Gottlieb SK, Fisher BK, Violin GA. Focal dermal hypoplasia. A nine-year follow-up study. Arch Dermatol. Oct 1973;108(4):551-3. [Medline].
Gündüz K, Günalp I, Erden I. Focal dermal hypoplasia (Goltz's syndrome). Ophthalmic Genet. Sep 1997;18(3):143-9. [Medline].
Hall EH, Terezhalmy GT. Focal dermal hypoplasia syndrome. Case report and literature review. J Am Acad Dermatol. Sep 1983;9(3):443-51. [Medline].
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].
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].
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].
Howell JB, Freeman RG. Cutaneous defects of focal dermal hypoplasia: an ectomesodermal dysplasia syndrome. J Cutan Pathol. Oct 1989;16(5):237-58. [Medline].
Jessner M. Falldemonstration Breslauer dermatologische verinigung. Arch Dermatol Syph. 1921;133:48.
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].
Kerr R. Goltz syndrome. Br Dent J. Nov 10 2001;191(9):477. [Medline].
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].
Lindsay EA, Grillo A, Ferrero GB, Roth EJ, Magenis E, Grompe M, 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].
McNamara T, Trotman CA, Russell KA. Gorlin-Goltz: what's in a name?. Spec Care Dentist. Mar-Apr 1998;18(2):84-7. [Medline].
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].
Mevorah B, Politi Y. Genodermatoses in women. Clin Dermatol. Jan-Feb 1997;15(1):17-29. [Medline].
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].
Naritomi K, Izumikawa Y, Nagataki S, Fukushima Y, Wakui K, Niikawa N, 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].
Orlow SJ, Watsky KL, Bolognia JL. Skin and bones. I. J Am Acad Dermatol. Aug 1991;25(2 Pt 1):205-21. [Medline].
Paller AS. Piecing together the puzzle of cutaneous mosaicism. J Clin Invest. Nov 2004;114(10):1407-9. [Medline].
Pessoa VE, Surana RB. Focal dermal hypoplasia. J Natl Med Assoc. Jan 1979;71(1):69-70. [Medline].
Ruiz-Maldonado R, Carnevale A, Tamayo L, Milonas de Montiel M. Focal dermal hypoplasia. Clin Genet. 1974;6(1):36-45. [Medline].
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].
Sacoor MF, Motswaledi MH. Three cases of focal dermal hypoplasia (Goltz syndrome). Clin Exp Dermatol. Jan 2005;30(1):35-7. [Medline].
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].
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].
Seven M, Suyugül Z, Yüksel A, Geçkinli 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].
Temple IK, MacDowall P, Baraitser M, Atherton DJ. Focal dermal hypoplasia (Goltz syndrome). J Med Genet. Mar 1990;27(3):180-7. [Medline].
Terashi H, Kurata S, Hashimoto H, Ishii Y, Takasaki S, Sonoda T, et al. A case of Goltz syndrome presenting as congenital incomplete alopecia. J Dermatol. Feb 1994;21(2):122-4. [Medline].
Terezhalmy GT, Moore WS, Bsoul SA, Flint DJ. Focal dermal hypoplasia (Goltz-Gorlin syndrome). Quintessence Int. Oct 2002;33(9):706-7. [Medline].
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].
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].
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].
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].
Warburg M. Focal dermal hypoplasia. Ocular and general manifestations with a survey of the literature. Acta Ophthalmol (Copenh). 1970;48(3):525-36. [Medline].
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].
Weedon D. Skin Pathology. 1998. New York, NY: Churchill Livingstone; 300-1.
Wettke-Schäfer R, Kantner G. X-linked dominant inherited diseases with lethality in hemizygous males. Hum Genet. 1983;64(1):1-23. [Medline].
Willetts GS. Focal dermal hypoplasia. Br J Ophthalmol. Jun 1974;58(6):620-4. [Medline].
Zuffardi O, Caiulo A, Maraschio P, Tupler R, Bianchi E, Amisano 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].
Further Reading
Keywords
FDH, Goltz's syndrome, Goltz syndrome, Goltz-Gorlin syndrome, #MIM305600
Treatment & Medication: Focal Dermal Hypoplasia Syndrome