Low risk of clinically important central nervous system dysraphism in a cohort study of 69 patients with isolated aplasia cutis congenita of the head.

BACKGROUND: Aplasia cutis congenita of the head may be associated with underlying fusion defects in the skin, soft tissues, muscle, or bone. The risk of central nervous system dysraphism in patients with aplasia cutis congenita is not known; however, knowledge of underlying structural defects can inform management considerations. METHODS: This retrospective review investigated the risk of cranial central nervous system dysraphism in children presenting with aplasia cutis congenita of the head, who presented between 1/1/2000 and 6/15/2016. Inclusion criteria were subjects with aplasia cutis congenita of the head who received CT or MR imaging of the head. RESULTS: We identified a total of 69 subjects with aplasia cutis congenita affecting the head and who received imaging. The most common location of the aplasia cutis congenita lesion was the vertex scalp (49.3%). The hair collar sign was present in 27.5% of patients. Twelve of 69 patients (17.4%) demonstrated abnormalities of the bone, vasculature, or brain on head imaging. Only one patient had a diagnosis of encephalocele that required neurosurgical intervention. There was a statistical association between the hair collar sign and the presence of abnormal imaging findings (P = .029), with a negative predictive value of 89.4%. CONCLUSIONS: The incidence of central nervous system dysraphism in patients with aplasia cutis congenita of the head appears to be low, and it may not be necessary to image the head of each child presenting with this skin lesion. The hair collar sign may be a marker of underlying defects.

Longitudinal Study of Pediatric Urticaria Pigmentosa.

BACKGROUND/OBJECTIVES: Urticaria pigmentosa (UP) is the most common form of mastocytosis in children and is associated with systemic signs, symptoms, and triggers. To our knowledge, the effect of UP on children's quality of life has not been studied. The objective of the current study was to characterize the natural history, triggers, and complications of pediatric UP, identify prognostic indicators, and determine its effect on quality of life. METHODS: Between 2002 and 2007, children with three or more mastocytomas diagnosed by a pediatric dermatologist were recruited during visits at the Children's Hospital of Wisconsin Dermatology Clinic (Milwaukee, WI). Research visits were conducted every 3 years and telephone interviews yearly. The Children's Dermatology Life Quality Index was administered to subjects 4 years of age and older at enrollment. Laboratory test results were collected for subjects younger than 4 years at enrollment. Subjects were followed until UP resolution or study end in August 2015. RESULTS: The final cohort size was 43 subjects followed for a median of 8.1 years. Twenty-six subjects were followed through study completion. At age 12 years, 6 patients had disease resolution and 14 remained active. Patients who had disease resolution before age 12 years were more likely to be male and had fewer years of age and smaller lesions, fewer affected areas, and earlier onset. Common medications and anesthetics resulted in no serious reactions. Hymenoptera stings occurred in 51%, with no reports of anaphylaxis. No patient reported a severe effect on quality of life, with most indicating mild to no effect. CONCLUSION: Severe complications are not common with historically identified triggers. Disease does not resolve before adolescence in most children. UP has a minimal effect on quality of life for most children.