Back to Database

EBP-sEDD

Previously: Chondrodysplasia punctata, X-linked dominant (CDPX2); Conradi-Hünermann-Happle syndrome

sEDD Gene: EBP XLD
Onset: Birth
Pathway: Lipid synthesis and transport
Category Paper: sEDD Paper
EBP-sEDD: newborn girl presenting with thick scaling along the Blaschko lines overlying truncal erythema.

EBP-sEDD: newborn girl presenting with thick scaling along the Blaschko lines overlying truncal erythema.

Key Clinical Clues

Congenital generalized scaling and erythroderma; evolves to blaschoid pattern with follicular atrophoderma.

Additional Cutaneous Features

Partial collodion membrane or generalized scaly erythroderma. Spontaneous improvement during first month, leaving linear and whorled patterns of scale, erythroderma, follicular atrophoderma along lines of Blaschko; variable PPK and nail dystrophy, cicatricial alopecia also along lines of Blaschko.

Additional Extracutaneous Features

Punctiform calcification of the bones (especially early in life); often shortened proximal bones, saddle nose deformity and other bone abnormalities, including short stature; cataracts and corneal opacity.

Treatment

Possibly effective: Topical combination of statin and cholesterol (based on Paller, 2011).

References

Pacault M, Vincent M, Besnard T et al. New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome. Eur J Hum Genet 2018; 26:1784-90. || Sutphen R, Amar MJ, Kousseff BG, Toomey KE. XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome). Am J Med Genet 1995; 57:489-92. || Horinouchi T, Morisada N, Uemura H et al. Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation. Am J Med Genet A 2019; 179:1315-18. || Furtado LV, Bayrak-Toydemir P, Hulinsky B et al. A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. Am J Med Genet A 2010 152A:2838-44. || Cañueto J, Girós M, Ciria S et al. Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature. Br J Dermatol 2012; 166:830-8.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer

Clinical Trial Opportunities

This feature is coming soon.

Additional Resources

→ GeneCards → PubMed Search