The skin biopsy specimen showed marked decrease in the thickness of the dermis and islands of adipose tissue in the midportion of the dermis. Radiographs of the patient's leg showed longitudinal striations in the metaphyseal regions of the long bones of limbs that were characteristic of osteopathia striata. Osteopathia striata was also evident on radiographic examination of her father's ulnar bone.
Focal dermal hypoplasia is a rare genodermatosis that was first described by Goltz et al1 in 1962. Approximately 95% of cases are sporadic, and 88% of the patients are female.2 This suggests X-linked dominant inheritance with lethality in hemizygous male patients.3 Male patients have rarely been described and have always been the first affected members in their families.2 Cases of father-to-daughter transmission have been rarely reported, with minimal expression of disease in the fathers.4 These male patients could be the result of gametic half-chromatid mutations (ie, only on 1 chromosomal DNA strand).3 Nevertheless, autosomal dominant mode of inheritance cannot be ruled out in these families.
Linear Atrophy, Telangiectases, and Soft Nodules Along the Lines of Blaschko With Skeletal Abnormalities. Arch Dermatol. 2001;137(8):1095–1100. doi:
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