Characteristics of children with Netherton syndrome: a review of 21 patients

Abstract

Nail dermoscopy (onychoscopy) is useful in diagnosis and treatment follow-up of the nail mixed infection caused by Pseudomonas aeruginosa and Candida albicans.

Prevalence of and risk factors for nutritional deficiency and food allergy in a cohort of 21 patients with Netherton syndrome

“…1,7,10,11 By comparison of our results with a recent NS cohort of 43 infants, our rates of nutritional support and interventions were much higher (NG tube in 70.6% vs. 33%; gastrostomy in 42.1% vs. 19%; parenteral nutrition in 20% vs. 19%) and started early, commonly within one month after diagnosis. 9 This might reflect changes in standard care, as Bellon et al included patients from the 1980 s onwards when gastrostomy TA B L E 2 No.…”

“…Thorough dietetic and medical histories were taken for all patients, but patient recall left some data points missing for later‐presenting patients. The median observation period at our pediatric centre was 11.6 years (Demographics are summarized in Table 1 and further information about this cohort was reported previously 7 ).…”

“…15,16 A high frequency of co-existing food allergies is further likely to contribute to the high prevalence of GI symptoms in NS in infancy. 7 GOR in infancy can be exacerbated by food allergy, which frequently manifests with nonspecific symptoms (e.g., regurgitation, vomiting, agitation, constipation, diarrhea, and poor sleep). 17,18 We therefore recommend that during this critical period (0-3 years) all patients NS should be evaluated by a multidisciplinary team (MDT) that includes pediatric gastroenterologist, pediatric allergist, and a specialist dietitian for an accurate diagnosis and appropriate medical and dietetic care plan.…”

“…A high frequency of co‐existing food allergies is further likely to contribute to the high prevalence of GI symptoms in NS in infancy 7 . GOR in infancy can be exacerbated by food allergy, which frequently manifests with nonspecific symptoms (e.g., regurgitation, vomiting, agitation, constipation, diarrhea, and poor sleep) 17,18 .…”

“…Retrospective data were collected at a tertiary pediatric dermatology centre, by reviewing the paper and electronic medical and dietetic notes. All patients presenting between January 1999 and July 2018 were included (same patient cohort as in Prodinger et al 7 ). Diagnosis of NS was established by negative immunofluorescence staining for LEKTI and/or SPINK5 mutation analysis.…”