Granulomatous dermatitis in common variable immunodeficiency with functional T-cell defect.
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Arm↗
Biomedical subjects
Raffaele Domenici
Publications and source records attributed to Raffaele Domenici.
Severe prognosis in a large family with hypokalemic periodic paralysis.
Hypokalemic periodic paralysis (HypoPP) is a channel disorder caused primarily by mutations in the human skeletal muscle alpha1 subunit (CACNA1S) of the dihydropyridine-sensitive calcium channel. Molecular, clinical, and biochemical studies were aimed at establishing genotype/phenotype correlations in a large Italian family affected by a severe form of HypoPP. Whereas patients with HypoPP usually show a normal life span, in this family three male patients died young, one of them from anesthetic complications resembling malignant hyperthermia. Our patients carried the c1583G>A genetic lesion (R528H), which has been associated with a mild phenotype and with incomplete penetrance in women. Surprisingly, the R528H amino acid substitution in the family presented here correlated with an unfavorable prognosis in both male and female patients. We conclude that genetic characterization is an important requirement to alert physicians about the management of similar patients, especially when anesthesia is considered.
Adolescent↗
Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.
The SLC12A3 gene encodes the thiazide-sensitive Na-Cl co-transporter (NCCT) expressed in the apical membrane of the distal convoluted tubule of the kidney. Inactivating mutations of this gene are responsible for Gitelman syndrome (GS), a disorder inherited as an autosomal recessive trait. We searched for SLC12A3 gene mutations in 21 Italian patients with the clinical and biochemical features of GS (hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria, and the absence of nephrocalcinosis). All coding regions with their intron-exon boundaries were analyzed using PCR and SSCP techniques followed by sequencing analysis. We identified 21 different mutations evenly distributed throughout the gene without any mutation hot-spot. Fifteen are novel variants, including 12 missense mutations, one deletion, one deletion-insertion and one splice site mutation: R158Q, T163M, W172R, G316V, G374V, G463E, A464T, S615W, V677M, R852S, R958G, C985Y, 2114-2120delACCAAGT, 2144-2158delGCCTTCTACTCGGATinsTG, and 531-2A>G.
Alkalosis↗
Diffuse sterile pustular eruption with changing clinical features in a 2-year old.
We report a 2-year-old girl with diffuse pustular eruptions occurring in close association with respiratory tract infections. The pustular eruption had different clinical characteristics over time, evolving from circinate to von Zumbush pustular psoriasis, and finally to subcorneal pustular dermatosis. Treatment with acitretin 1 mg/kg/day gave good results. A relapse showing striking clinical characteristics of subcorneal pustular dermatosis was treated with dapsone (1 mg/kg/day) followed by ultraviolet B-narrowband (UV-B-NB) phototherapy. The patient subsequently had several relapses over 1 year, which were well controlled with short cycles of UV-B-NB. This patient's findings demonstrate that pustular eruptions can vary over time, assuming clearly different clinical patterns, and highlight the difficulty of classifying pustular eruptions as separate diseases.
Acitretin↗