Allergic contact versus irritant contact dermatitis in patients with hard-to-heal leg ulcer: clinical and diagnostic approach.

BACKGROUND: Dermatitis of surrounding skin may complicate hard-to-heal leg ulcers, delaying wound healing. The coexistence of hard-to-heal leg ulcers and irritant or allergic contact dermatitis may create difficulties for both diagnostic and therapeutic management. OBJECTIVE: The aim of our study was to evaluate the incidence of dermatitis occurring in the surrounding skin in a population affected by hard-to-heal leg ulcers during treatment, and to differentiate between allergic contact dermatitis (ACD) and irritant contact dermatitis (ICD) with the use of a patch test. Furthermore, we investigated which medications were most probably related to these conditions. METHOD: We conducted an observational study from 21 February to 21 July 2017, enlisting all patients affected by hard-to-heal leg ulcers who attended the Wound Care Service of the Dermatologic Department of ASST, Spedali Civili, Brescia, Italy. RESULTS: We enrolled 95 patients; 81 patients did not develop dermatitis, while 14 patients developed dermatitis of the surrounding skin. These patients underwent a patch test which gave a positive result in seven patients, permitting the diagnosis of ACD. CONCLUSION: Our study confirmed the incidence of dermatitis of the surrounding skin reported in the literature but reassessed the incidence of ACD as opposed to ICD.

Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.

BACKGROUND: Classic Ehlers-Danlos syndrome (cEDS) is a rare autosomal dominant connective tissue disorder that is primarily characterized by skin hyperextensibility, abnormal wound healing/atrophic scars, and joint hypermobility. A recent study demonstrated that more than 90% of patients who satisfy all of these major criteria harbor a type V collagen (COLLV) defect. METHODS: This cohort included 40 patients with cEDS who were clinically diagnosed according to the Villefranche nosology. The flowchart that was adopted for mutation detection consisted of sequencing the COL5A1 gene and, if no mutation was detected, COL5A2 analysis. In the negative patients the presence of large genomic rearrangements in COL5A1 was investigated using MLPA, and positive results were confirmed via SNP-array analysis. RESULTS: We report the clinical and molecular characterization of 40 patients from 28 families, consisting of 14 pediatric patients and 26 adults. A family history of cEDS was present in 9 patients. The majority of the patients fulfilled all the major diagnostic criteria for cEDS; atrophic scars were absent in 2 females, skin hyperextensibility was not detected in a male and joint hypermobility was negative in 8 patients (20% of the entire cohort). Wide inter- and intra-familial phenotypic heterogeneity was observed. We identified causal mutations with a detection rate of approximately 93%. In 25/28 probands, COL5A1 or COL5A2 mutations were detected. Twenty-one mutations were in the COL5A1 gene, 18 of which were novel (2 recurrent). Of these, 16 mutations led to nonsense-mediated mRNA decay (NMD) and to COLLV haploinsufficiency and 5 mutations were structural. Two novel COL5A2 splice mutations were detected in patients with the most severe phenotypes. The known p. (Arg312Cys) mutation in the COL1A1 gene was identified in one patient with vascular-like cEDS. CONCLUSIONS: Our findings highlight that the three major criteria for cEDS are useful and sufficient for cEDS clinical diagnosis in the large majority of the patients. The borderline patients for whom these criteria fail can be diagnosed when minor signs of connective tissue diseases and family history are present and when genetic testing reveals a defect in COLLV. Our data also confirm that COL5A1 and COL5A2 are the major, if not the only, genes involved in cEDS.

Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type.

Visceroptosis is described in several heritable connective tissue disorders, including the hypermobility type of Ehlers-Danlos syndrome (hEDS), a.k.a. joint hypermobility syndrome (JHS). Clinical features of hEDS comprise joint hypermobility, mild skin hyperextensibility, joint instability complications, chronic joint/limb pain, and positive family history. Uterine and rectal prolapse has been reported in nulliparous women. We report on a family with two patients with hEDS. The proposita, a 38-year-old woman, present bilateral kidney prolapse requiring three nephropexies, gastric ptosis treated with gastropexy and Billroth I gastrectomy, and liver prolapse treated with a non-codified hepatopexy procedure. Radiological evaluation also showed ovarian and heart prolapse. To our knowledge this is the first case of multiple visceral ptoses in hEDS. Visceral prolapse may lead to severe morbidity, affecting quality of life and a high rate of relapses after surgical procedures. Further investigations are needed to understand the molecular basis of the disease and retrospective studies on surgical outcomes, presentation of case series can be effective in order to offer a better treatment and prevention for hEDS patients.