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Case Reports
. 2021 Nov;38(6):1592-1593.
doi: 10.1111/pde.14852. Epub 2021 Nov 8.

Conradi-Hünermann-Happle syndrome with minimal signs

Manuel Agud-Dios  1 , Nelmar Valentina Ortiz Cabrera  2 , Lucero Noguera-Morel  1 , Angela Hernández-Martín  1 , Isabel Colmenero  3 , Rudolf Happle  4 , Antonio Torrelo  1
Affiliations
Case Reports

Conradi-Hünermann-Happle syndrome with minimal signs

Manuel Agud-Dios et al. Pediatr Dermatol. 2021 Nov.

Abstract

A 4-year-old girl presented with congenital patches of scalp alopecia, which on physical examination, was consistent with blaschkolinear alopecic patches with mild epidermal atrophy. Similar atrophic hypopigmented patches were seen on the trunk and proximal extremities. With the clinical suspicion of Conradi-Hünermann-Happle syndrome, genetic testing was performed and revealed a mutation in the EBP gene. Despite characteristic cutaneous findings, no skeletal, ocular, or other anomalies were found on further evaluation.

Keywords: Alopecia; Genetic diseases/mechanisms; Genodermatoses; Ichthyosis.

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References

REFERENCES

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