Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Leiner's disease (LD) is a rare and serious syndrome of infantile erythroderma of severe and progressive generalized seborrheic-like dermatitis, recalcitrant diarrhea, malabsorption and wasting, and recurrent local and systemic infections. The purpose of this study is to provide an updated review on management with a summarized review of available peer-reviewed articles on LD. The mechanisms underlying this disease process remain unclear. The diagnosis includes demonstration of deficient opsonic activity along with the clinical tetrad of erythroderma, persistent gastrointestinal disturbance, superimposed bacterial or candidal infection, and marked wasting. An important correlation between LD and defective yeast and Staphylococcus aureus opsonization has been established. For the familial form of LD, an association of either complement three deficiency or complement five dysfunction has been made. LD should be distinguished from other types of infantile erythroderma, including Omenn syndrome. Treatment includes fluid and nutrition replacement, antibiotics to control infection, and fresh-frozen plasma therapy. The prognosis is unclear; it depends on treatment. LD is a life-threatening condition that requires prompt identification and hospitalization. Affected infants who receive vigorous treatment not only have the prospect of surviving, but also generally lead a normal life after infancy.
Dermatol Ther 2020 Nov 09
PMID:Leiner's disease (erythroderma desquamativum): A review and approach to therapy. 3316 12

Treating patients with genodermatoses is challenging because of the chronic disease course and of limited available therapies. We report on the efficacy of secukinumab for the treatment of a genodermatosis caused by biallelic loss-of-function mutations in the desmoglein 1 gene (DSG1), the SAM syndrome. The SAM syndrome comprises severe dermatitis, multiple allergies and metabolic wasting and it can manifest as ichthyosiform erythroderma at birth.1 Additional variable features are palmoplantar keratoderma, hypotrichosis, recurrent skin infections, malabsorption and failure to thrive.2.
Br J Dermatol 2020 Nov 18
PMID:Secukinumab for the treatment of SAM syndrome associated with desmoglein-1 deficiency. 3320 94


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