Poikiloderma with neutropenia: An alternate presentation with dyspigmentation and novel USB1 mutation.

Two siblings presented with sun sensitivity and progressive dyspigmentation. A diagnosis of xeroderma pigmentosum was initially favored due to XPC mutations, although variants were not clearly diagnostic. However, new moderate neutropenia and homozygous suspected pathogenic variants in USB1 led to diagnosis of poikiloderma with neutropenia. This case highlights the importance of reevaluation of diagnosis due to significant phenotypic overlap in congenital disorders of photosensitivity with poikiloderma or dyspigmentation.

Examination of use and barriers for five sun protection strategies in parents and their children.

BACKGROUND/OBJECTIVES: Sun protection starting in childhood is an important means of skin cancer prevention. Factors associated with sunscreen use have been previously described. However, less is known about factors associated with children's utilization of non-sunscreen sun protection strategies. We sought to examine parent and child characteristics, parental use of sun protection, and barriers associated with children's use of five sun protection strategies: sunscreen, shirts with sleeves, wide-brimmed hats, sunglasses, and shade. METHODS: A cross-sectional survey of parents of children entering kindergarten through grade 8. Survey participants were recruited at the 2016 Minnesota State Fair. RESULTS: A total of 409 parents were surveyed. The most common sun protection strategies parents reported for their child were wearing a shirt with sleeves (69.9%) and using sunscreen (61.9%), while protection via shade, wide-brimmed hats, and sunglasses were reported by less than one-quarter of parents. For each individual strategy, parents' own use of that strategy was strongly associated with that strategy in their children. Lack of child cooperation was associated with decreased use of sunscreen, shirts with sleeves, and wide-brimmed hats. CONCLUSION: Significant room for improvement exists in childhood sun protection. Parents should especially be encouraged to use shade, wide-brimmed hats, and sunglasses as methods of protection for their children. Advising parents to model seeking shade, applying sunscreen, and choosing appropriate clothing and hats may improve sun safety practices.

Ectropion Improvement with Topical Tazarotene in Children with Lamellar Ichthyosis.

BACKGROUND/OBJECTIVES: Lamellar ichthyosis (LI) is a well-described phenotypic subtype of autosomal recessive congenital ichthyosis (ARCI). The condition typically presents at birth with collodion membrane and leads to thick, plate-like scaling of the skin throughout the body, alopecia, and prominent ocular manifestations. Ocular complications include bilateral cicatricial ectropion and lagophthalmos. These ocular complications can lead to chronic exposure keratitis and in some cases corneal ulceration and blindness. No cure for ichthyosis exists. Treatment of ocular complications in LI includes surgical correction, systemic retinoids, and a variety of topical therapies such as emollients, keratolytics, and retinoids. METHODS: Five children with LI cared for at our institution were identified and included. Patient age at the start of therapy ranged from 2 weeks to 9 years. Electronic medical records were reviewed and data from pediatric dermatologist and pediatric ophthalmologist visits were obtained. Data were collected before and after treatment of daily or twice-daily 0.05% to 0.1% tazarotene cream applied to the face and eyelids. RESULTS: All patients had improvement in the degree of ectropion, with complete resolution in two of the five patients. The two patients with lagophthalmos at the time of tazarotene initiation experienced complete resolution. No adverse effects were reported. CONCLUSIONS: Tazarotene cream appears to be effective in the management of ectropion and lagophthalmos in the setting of LI in children, even in the neonatal period.