Goltz syndrome: a rare case of father-to-daughter transmission

Abstract

An 8-year-old girl presented to us with skin-coloured to yellowish soft compressible papules, intermixed with hypopigmented and hyperpigmented macules in a Blaschkoid pattern, and ‘lobster-claw deformity’ affecting her bilateral feet. Additional examination findings included short stature, facial asymmetry, low-set ears, hypodontia, enamel hypoplasia, tonsillar enlargement and spina-bifida occulta at S1–3 vertebral level. A diagnosis of Goltz syndrome was suspected clinically, which was confirmed on skin biopsy. Her father also had hypopigmented and hyperpigmented macules in a Blaschkoid distribution, ‘lobster-claw’ deformity and kyphoscoliosis. None of the other family members were affected.