HPI: This 3.5 mo old infant male is the product of a normal pregnancy and delivery. He has had a severe dermatitis since shortly after birth. The process is most prevalent on head and neck and torso. He has lost weight on 150 kcal/kg per day. On visits seems happy and content. Three older siblings are all normal.
O/E: Widespread scaly patches on trunk and scalp. Thick cradle cap, greasy scale scalp and face. Background erythema. Red excoriated napkin area.
Photos: Taken when child was 9 weeks old.
Labs: Hi K+ and NA on hospital admission for FTT (but since normalized). Mild eosiniophilia and increased plts. Normal: CBC, ZN, IgE, IgM, IgA, IgG, amino acids. Normal karyotype, negative FISH for Williams Syndrome. Complement levels will be done and hair will be looked at for trichorhexis invagninata.
Diagnosis: Unclear. Initially I thought this child had infantile seborrheic dermatitis, but that usually responds well to treatment. At this point, Leiner's and Netherton's syndromes need to be ruled out. While neglect was initially considered, the child's pediatrician feels at this time that the mother is competent and has raised three other normal children.
Discussion: I saw this child once six weeks ago and because of transportation problems they could not keep f/u appointments. The eruption was originally treated with HC valerate 0.2% cream. Scalp hygiene was discussed. At this point a systemic process is considered.
Questions: In addition to considering Netherton's and complement deficiency syndromes like Leiner's what else would you recommend?
Follow-Up: The patient saw a pediatric gastroenterologist who changed her formula to one that excluded all milk proteins -- the eruption cleared completely in a few days and weight gain ensued. This was a milk allergy that masqueraded as a serious underlying disorder.
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