Severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome caused by de novo mutation in the DSP gene misdiagnosed as generalized pustular psoriasis and treatment of acitretin with gabapentin

Abstract

Severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome is a recently recognized syndrome caused by mutations in the desmoglein 1 (DSG1) and desmoplakin (DSP) genes. Only two cases of SAM‐DSP have been reported. We report on a 2‐year‐old girl presenting with pustular lakes within areas of erythema and large accumulations of intraepidermal neutrophils, which initially led to our misdiagnosis of generalized pustular psoriasis. No mutation was found in either the IL36RN or CARD14 genes by Sanger sequencing. The distinctive manifestations of erythroderma with severe itching, hypotrichosis, enamel defects, onychodystrophy, palmoplantar keratoderma and the crucial result of de novo missense mutation in exon 14 of the DSP gene (c.1828T>C, p.S610P) discovered by next‐generation sequencing finally confirmed the diagnosis of SAM syndrome. The eruptions significantly improved after a 4‐week treatment with oral acitretin and topical pimecrolimus. Oral gabapentin was prescribed simultaneously for 4 months, relieving her skin pruritus and suggesting that early treatment with pimecrolimus, acitretin and gabapentin for SAM‐DSP syndrome is effective. It may even inhibit multiple allergies induced by skin barrier injury. In this work we also review the clinical features, differential diagnoses and pathological manifestations of SAM‐DSP syndrome.

Deimination Protein Profiles in Alligator mississippiensis Reveal Plasma and Extracellular Vesicle-Specific Signatures Relating to Immunity, Metabolic Function, and Gene Regulation

“…In the Xenopus laevis embryo, it is required for morphogenesis and for epidermal integrity (230). A range of allergies have been linked to mutations in desmoplakin, as well as metabolic wasting (SAM) syndrome and severe dermatitis (231). Desmoplakin has also roles in Carvajal syndrome, relating to hair abnormalities and altered skin (232).…”

Deiminated proteins and extracellular vesicles - Novel serum biomarkers in whales and orca

“…It has been shown to be required for epidermal integrity and embryo morphogenesis (Bharathan and Dickinson, 2019), as well as in the coordination of cell migration (Bendrick et al, 2019). Mutations in desmoplakin have been linked to multiple allergies, severe dermatitis and metabolic wasting (SAM) syndrome (Liang et al, 2019). It is also linked to Carvajal syndrome, involving altered skin and hair abnormalities, and heart diseases (Reichl et al, 2018;Yermakovich et al, 2018;.…”

Deiminated proteins in extracellular vesicles and serum of llama (Lama glama)—Novel insights into camelid immunity

“…It has been shown to be required for epidermal integrity and morphogenesis in the Xenopus laevis embryo (Bharathan and Dickinson, 2019) and novel roles in coordination of cell migration were recently established (Bendrick et al, 2019). Mutations in desmoplakin have been linked to multiple allergies, severe dermatitis and metabolic wasting (SAM) syndrome (Liang et al, 2019). It is also linked to Carvajal syndrome, involving altered skin and hair abnormalities, and heart diseases (Yermakovich et al, 2018), including cardiomyopathies (Reichl et al, 2018;Chen et al, 2019aChen et al, , 2019b.…”