Scalp lesions in Turner syndrome: a result of lymphoedema?

Abstract

Lymphoedema and skin naevi are common in children with Turner syndrome (TS). Lymphoedema in the early stages of fetal life is thought to cause several of the phenotypic characteristics in patients with TS such as nuchal folds and pterygium colli. We present two patients with TS who have unusual lesions on the scalp. The first patient had an oval circumscribed lesion. Two biopsies were obtained from the lesion. Increased numbers of collagen fibres were seen in the reticular dermis suggesting the diagnosis of connective tissue naevus. The second patient presented with an area with skin folds on the scalp, similar to cutis verticis gyrata. Although unusual in TS, both lesions could be considered as resolving stages of lymphoedema. We suggest that karyotyping should be performed in cases of female infants presenting with similar lesions.

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

“…Clinical practice suggests that keloids commonly occur, but one report showed that only about 3% developed keloids or hypertrophic scars after surgical procedures (402). Prevalence data are not available for alopecia areata (23, 400, 403) and for cutis verticis gyrata (402,404,405,406) though case reports exist. Whorling skin pigmentation patterns, such as hypomelanosis of Ito, may accompany mosaic karyotypes (407).…”

Isolated collagenoma on the scalp: A rare presentation

“…reported two cases of scalp collagen nevi associated with Turner syndrome and considered it as resolving stage of lymphoedema. [3] In a study by Laxmisha et al . described isolated scalp collagenoma mimicking cutis verticis gyrata in a 35-year-old female with no associated abnormalities.…”

Turner Syndrome: An Update and Review for the Primary Pediatrician

“…22,23 Growth/Stature At birth, infants with TS will typically fall within the lower end of the normal range for length. As they continue to grow, their growth velocity tends to decrease so that a diagnosis may be made by 18 months, or their growth failure may be so mild that the child will go undetected until midchildhood or puberty (when it becomes obvious that a girl with TS is not going to maintain her pubertal growth spurt).…”

“…Unfortunately, because the cystic hygromas and lymphedema are present during development, females with TS may be left with a webbed neck, scalp lesions, concave, hyperconvex, or upturned fingernails, a transverse palmar crease, or several other dermatologic anomalies. 22,23 Growth/Stature At birth, infants with TS will typically fall within the lower end of the normal range for length. As they continue to grow, their growth velocity tends to decrease so that a diagnosis may be made by 18 months, or their growth failure may be so mild that the child will go undetected until midchildhood or puberty (when it becomes obvious that a girl with TS is not going to maintain her pubertal growth spurt).…”