A Case of Familial Focal Dermal Hypoplasia: A Report of 3 Cases in Consecutive Generations

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David Ernesto Castillo
Nicole Nagrani
David Castillo
Rocio Reyes Mu?oz
Mayerlis C?rdenas Guevara
Samuel D. Morales
Anna Nichols


Goltz syndrome, focal dermal hypoplasia, case report, familial case


Focal dermal hypoplasia (FDH), or Goltz syndrome, is a rare multisystem disorder affecting mesodermal and ectodermal structures, with the skin, eyes, teeth, and musculoskeletal systems most commonly affected. FDH results from mutations in the PORCN gene. Ninety-five percent of cases arise from novo mutations, whereas 5% are hereditary with an X-linked dominant inheritance pattern. Here, we describe an uncommon presentation of FDH in three consecutive generations. Patient 1 is an 8-month-old female born of non-consanguineous marriage who presented with diffuse alopecia of the scalp, linear hypopigmented, atrophic papules, and plaques with peripheral hyperpigmentation on the left hemiabdomen and right lateral leg along Blaschko's lines as well as syndactyly of the right second and third toes. Skin biopsy from the abdomen showed a thin epidermis with flattened rete ridges and massive dermal edema within collagen fibers and reactive capillaries. Family history was significant for similar skin lesions and bone deformities in her mother and similar skin lesions in her grandmother. Patient 2 (patient 1’s mother) is a 17-year-old female with similar linear hypopigmented, atrophic plaques with peripheral hyperpigmentation on the abdomen and right axilla, syndactyly of the right hand, patchy alopecia of the scalp, microdontia, teeth fusion, enamel defects, verrucous papillomas in the axillae and onycholysis. Patient 3 (patient 1’s grandmother), presented with similar hypopigmented, atrophic plaques on the abdomen and left arm.


1. Goltz, R.W., Focal dermal hypoplasia syndrome. An update. Arch Dermatol, 1992. 128(8): p. 1108-11.
2. Bostwick, B., et al., Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals. Am J Med Genet C Semin Med Genet, 2016. 172C(1): p. 9-20.
3. Wang, L., et al., Focal dermal hypoplasia: updates. Oral Dis, 2014. 20(1): p. 17-24.
4. Severino-Freire, M., et al., Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients. Acta Derm Venereol, 2017. 97(7): p. 853-854.
5. Mary, L., et al., Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature. Am J Med Genet A, 2017. 173(2): p. 479-486.
6. Wang, X., et al., Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet, 2007. 39(7): p. 836-8.
7. Jain, A., et al., A rare multisystem disorder: Goltz syndrome - case report and brief overview. Dermatol Online J, 2010. 16(6): p. 2.
8. Bornholdt, D., et al., PORCN mutations in focal dermal hypoplasia: coping with lethality. Hum Mutat, 2009. 30(5): p. E618-28.
9. Sellars, E.A., et al., Variable presentation between a mother and a fetus with Goltz syndrome. Prenat Diagn, 2013. 33(12): p. 1211-3.
10. Bree, A.F., et al., Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). Am J Med Genet C Semin Med Genet, 2016. 172C(1): p. 44-51.
11. Bostwick, B., I.B. Van den Veyver, and V.R. Sutton, Focal Dermal Hypoplasia, in GeneReviews(R), M.P. Adam, et al., Editors. 1993: Seattle (WA).
12. Smith, A. and T.R. Hunt, 3rd, The orthopedic characterization of Goltz syndrome. Am J Med Genet C Semin Med Genet, 2016. 172C(1): p. 41-3.