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.
Interesting case. The "horseshoe" distribution on the face and involvement of diaper could be caused by zinc deficiency (either acrodermatitis enteropathica or acquired, if he is breastfed) so would check a serum zinc level and an alkaline phosphatase. Langerhan's Cell Histiocytosis also came to mind - are there any other clues to this, like crusted papules on the palms and soles or petechial papules? I'd do a skin biopsy with staining for S100 and CD1a to rule this out.
ReplyDeleteWould also consider biotin deficiency (check biotinidase levels), cystic fibrosis (but I believe Massachusetts includes CF on newborn screens now), and amino acidurias (check urine and plasma amino acids). If all workup is negative, this could be infantile psoriasis, especially if there is a family history - but this wouldn't explain the failure to thrive so would keep searching for underlying causes.
This comment is from Brian Maurer:
ReplyDelete(1) Severe atopic dermatitis exacerbated by milk protein allergy. These kids may exhibit blood-tinged mucousy stools. Child exhibits mild eosinophilia, but IgE is normal.
(2) Scabies. The infantile form can be quite extensive, involving the face as well as the entire body. I would expect other family members to exhibit signs as well.
(3) HIV. These kids often exhibt FTT. Do we know the mother's HIV status?
(4) Histiocytosis X (infantile form is Letterer-Siwe disease). Characterized by scaly waxy eruption of the scalp, nape, axilla, and groin. Resembles seborrheic dermatitis but usually displays purpura and may have signs of hepatosplenomegaly, lymphadenopathy, and weight loss. Skin biopsy shows atypical histiocytes.
(5) Acrodermatitis enteropathica. Always with diarrhea and failure to thrive. Low serum zinc confirms, but this child's Zn is normal.
(6) Other immunodeficiency syndromes. See case report: http://www.ncbi.nlm.nih.gov/pubmed/11204605