Abstract
Objective
To describe the varying phenotypic spectrum of Focal Dermal Hypoplasia (FDH) and to emphasize the need for identifying the condition in mildly affected females which is crucial for offering a prenatal diagnosis in subsequent pregnancy owing to the risk of having a severely affected baby.
Methods
The phenotype-genotype correlation of 4 patients with FDH, over a period of 11 y from the genetic clinic in a tertiary care centre from Kerala, India was done.
Results
All four mutation proven patients were females (2 adults and 2 children). One of the adult female subjects were mildly affected, though she had a history of having a severely affected female child who expired on day six. Among the 2 affected children, one of them had an unaffected mother and the other had an affected mother.
Conclusions
FDH has a wide clinical spectrum from very subtle findings to severe manifestations. The lethality of the condition in males and the disfigurement and multisystem involvement in females highlights the importance of confirmation of diagnosis by molecular analysis so that the family can be offered prenatal diagnosis in subsequent pregnancy.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Harmsen MB, Azzarello-Burri S, García González MM, et al. Goltz - Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defect (MLS) syndrome: no evidence of genetic overlap. Eur J Hum Genet. 2009;17:1207–15.
Bierhals T, Maddukuri SB, Kutsche K, Girisha KM. Expanding the phenotype associated with 17q12 duplication: case report and review of the literature. Am J Med Genet A. 2013;161A(2):352–9.
Goltz RW, Peterson WC, Gorlin RJ, Ravitz HG. Focal dermal hypoplasia. Arch Dermatol. 1962;86:708–17.
Gorlin RJ, Meskin LH, Peterson WC, Goltz RW. Focal dermal hypoplasia syndrome. Acta Derm Venereol. 1963;43:421–40.
Bostwick B, Fang P, Patel A, Sutton VR. Phenotypic and Molecular characterization of focal dermal hypoplasia in 18 individuals. Am J Med Genet Part C Semin Med Genet. 2016;172C:9–20.
Wright JT, Puranik CP, Farrington F. Oral phenotype and variation in focal dermal hypoplasia. Am J Med Genet Part C Semin Med Genet. 2016;172C:52–8.
Temple IK, Mac Dowall P, Baraitser M, Atherton DJ. Focal dermal hypoplasia (Goltz syndrome). J Med Genet. 1990;27:180–7.
Burgdorf WH, Dick GF, Soderberg MD, Goltz RW. Focal dermal hypoplasia in a father and a daughter. J Am Ac Dermatol. 1981;4:273–7.
Wang L, Jin X, Zhao X, et al. Focal dermal hypoplasia: updates. Oral Dis. 2014;20:17–24.
Smith A, Hunt TR 3rd. The orthopedic characterization of Goltz syndrome. Am J Med Genet C Semin Med Genet. 2016;172C:41–3.
Gisseman JD, Herce HH. Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): a case series of 18 patients. Am J Med Genet C Semin Med Genet. 2016;172:59–63.
Deidrick KK, Early M, Constance J, Stein M, Fete TJ. Cognitive and psychological functioning in focal dermal hypoplasia. Am J Med Genet C Semin Med Genet. 2016;172C:34–40.
Maas SM, Lombardi MP, van Essen AJ, et al. Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome. J Med Genet. 2009;46:716–20.
Adeyemi - Fowodw OA, Mansouri R, Dietrich JE. Gynecological findings in Goltz syndrome: a case series. Am J Med Genet Part C Semin Med Genet. 2016;172C:64–6.
Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes of the head and neck, 4th ed. New York/London: Oxford University Press; 2001. p. 571–6.
Brady PD, Van Esch H, Fieremans N, et al. Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia. Eur J Hum Genet. 2015;23:551–4.
Mahé A, Couturier J, Mathe C, Lebras F, Bruet A, Fendler JP. Minimal focal dermal hypoplasia in a man: a case of father to daughter transmission. J Am Ac Dermatol. 1991;25:879–88.
Author information
Authors and Affiliations
Contributions
DY prepared the manuscript and did detailed literature search. UMB and KK did the molecular studies and interpretation. MN did literature search and had helped in manuscript preparation. SN had conceived the idea of drafting this paper and has done the final drafting and will act as the guarantor of the manuscript.
Corresponding author
Ethics declarations
Conflict of Interest
None.
Rights and permissions
About this article
Cite this article
Yesodharan, D., Büschenfelde, U.M.z., Kutsche, K. et al. Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum. Indian J Pediatr 85, 1067–1072 (2018). https://doi.org/10.1007/s12098-018-2632-1
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12098-018-2632-1