title: 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.
authors.affiliation: Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Vishal
authors.initials: V
authors.lastname: Gupta
authors.affiliation: Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Himabindu
authors.initials: H
authors.lastname: Saginatham
authors.affiliation: Department of Pathology, All India Institute of Medical Sciences, New Delhi, Delhi, India.
authors.forename: Sudheer
authors.initials: S
authors.lastname: Arava
authors.affiliation: Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Gomathy
authors.initials: G
authors.lastname: Sethuraman
mesh_terms: D002648:Child; D003937:Diagnosis, Differential; D005220:Fathers; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000175:diagnosis / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D009679:Nuclear Family; D000072740:Paternal Inheritance / Q000235:genetics*; D010375:Pedigree