[Shwachman-diamond syndrome as cause of infantile eczema associated with failure to thrive].
BACKGROUND
Shwachman-Diamond syndrome is an autosomal recessive multisystem disorder involving an insufficiency of the exocrine pancreas and haematological problems as main symptoms. Frequently, ichthyosiform skin lesions are described but are usually not the leading symptom of the disease.


METHODS
We report on a 6-months-old boy suffering from ichthyosiform and eczematous skin eruptions beginning at the age of 3 months which were accompanied by failure to thrive. Because of an atopic predisposition and a sensitisation to hen's egg the diagnosis atopic dermatitis with food allergy was established. We describe the steps leading to the diagnosis Shwachman-Diamond syndrome.


CONCLUSIONS
Shwachman-Diamond syndrome may present with skin eruptions as main symptom. A mixed clinical picture with an atopic dermatitis may occur and can aggravate skin symptoms. Additional medical problems like failure to thrive or neutropenia should lead to further diagnostic procedures to exclude Shwachman-Diamond syndrome.
Lange
L
L
Zentrum für Kinderheilkunde und Jugendmedizin, Universitätsklinik Köln. Lars.Lange@marien-hospital-bonn.de
Simon
T
T
Ibach
B
B
Rietschel
E
E
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002869:Chromosome Aberrations; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004485:Eczema / Q000209:etiology; D010188:Exocrine Pancreatic Insufficiency / Q000175:diagnosis* / Q000235:genetics; D005183:Failure to Thrive / Q000209:etiology; D005808:Genes, Recessive / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000209:etiology; D007223:Infant; D008297:Male; D011506:Proteins / Q000235:genetics; D013577:Syndrome
D011506:Proteins; C470521:SBDS protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator