Superficial angiomyxoma: report of four cases, including two subungueal tumors

We report four cases of superficial angiomyxomas, including two cutaneous tumors and two subungueal tumors. Histological analysis revealed a recently described tumor, so called superficial angiomyxoma. This is a myxoid paucicellular tumor lobulated and poorly circumbscribed, containing numerous small blood vessels surrounded by a mixed inflammatory cell infiltrate with notable neutrophils. Those tumors are positive for CD34. The differential diagnosis includes myxoid neurothecoma, myxoid neurofibroma and, for ungueal tumors, superficial acral fibromyxoma.     

Reflectance confocal microscopy for quantification of Sarcoptes scabiei in Norwegian scabies

Background and Objectives In vivo reflectance‐mode confocal microscopy (RCM) can be used for the diagnosis of scabies. This study quantifies S. scabiei and its eggs and droppings in a patient affected by Norwegian Scabies (NS), and describes their distribution within the epidermis and in different body areas. Methods Different skin sites were randomly chosen in four sections (head, upper limbs, trunk and inferior limbs) of the body surface area (BSA) to acquire a total of 60 RCM z‐stacks. The number of mites and eggs, the presence of droppings, as well as the minimum epidermal depth at which mites, eggs and faeces were detectable, was established for each z‐stack. The total number of mites and eggs on the entire BSA was calculated considering the weighted mean for the four sections of the BSA. Results A total of 15.8 millions of S. scabiei and 7.2 millions of eggs were calculated. Mites, eggs and faeces were homogeneously distributed all over the body surface. Droppings, easily recognized by the RCM, were present in more than an half of the analyzed cutaneous sites and were associated with the presence of parasites (chi‐squared test, P = 0.002). Conclusions Our study illustrates the ability of RCM to identify, locate, and quantify the various forms of S. scabiei in human skin. NS is an extremely contagious disease, considering that the number of mites can be around 15.8 millions. Moreover, all areas of the body are parasitized in NS, including the face.     

Ichthyosis and steroid sulfatase: study of enzymatic activity in leukocytes and fibroblasts according to the sex and type of ichthyosis

Steroidsulfatase and arylsulfatase C were determined in fibroblasts and/or leukocytes of patients affected with different types of ichthyosis. Of the 21 patients studied, 11 showed clinical characteristics of X-linked ichthyosis (XLI) and a deficiency of these 2 enzymatic activities. Patients affected with other types of ichthyosis showed no enzymatic deficiency. In XLI families diagnosis of heterozygotes was performed by enzymatic measurements in the 5 patients' mothers studied. In 2 families enzymatic activities were studied in patients' sisters. The validity of these different enzymatic measurements is discussed.     

Sentinel lymph node detection in primary melanoma with preoperative dynamic lymphoscintigraphy and intraoperative gamma probe guidance

BACKGROUND: This study assessed the value of the radioisotopic method used alone, and factors influencing relapse rates, for sentinel lymph node (SLN) mapping in primary melanoma. METHODS: One hundred and thirty-three patients with a diagnosis of melanoma (thickness greater than 0.75 mm) underwent gamma probe-directed lymphatic mapping in a prospective single-centre study. RESULTS: Mean Breslow thickness was 3 mm. At least one SLN was identified in 132 patients (mean 1.8 nodes per patient); the success rate was 99.2 per cent. Twenty-two patients (16.7 per cent) had a metastasis within the SLN. The mean tumour thickness in patients with a metastatic SLN was 4.4 mm compared with 2.7 mm for patients with a negative SLN (P < 0.001). The median time to recurrence was 20.4 months in SLN-negative patients compared with 8.5 months in those with SLN metastasis (P < 0.001). Ten (9.1 per cent) of the 110 SLN-negative patients developed recurrence. Three patients relapsed in the previously mapped lymphatic basin after a median follow-up of 27.1 months. CONCLUSION: This study confirmed the reliability and accuracy of SLN mapping using a radioisotope technique, and also the importance of the SLN as a predictive factor for survival. There was a low risk of locoregional recurrence when the SLN was not involved.     

Fabry's disease and hypoparathyroidism

INTRODUCTION: Fabry's disease is due to alpha-galactosidase deficiency. This rare lysosomal storage disease is transmitted by recessive X-linked heredity. Sphingolipids (galactosyl-glucosyl-ceramide) accumulate in many organs. CASE REPORT: A 19-year-old man with known hypoparathyroidism presented with telangiectasia and angiokeratomas on the buttocks, the hips, the hands and around the navel. For many years, he suffered from paroxysmal pain in the hands and feet. From childhood, he had complained of diffuse abdominal pain, associated with diarrhea. Ophthalmological slit lamp fundus examination showed corneal telangiectasia and cornea verticella. There was no kidney or heart involvement. The diagnosis of Fabry's disease was confirmed by very low levels of alpha-galactosidase. DISCUSSION: We did not find any other association of hypoparathyroidism and Fabry's disease in the literature. Hypoparathyroidism is not a manifestation of Fabry's disease. Idiopathic hypoparathyroidism is very rare and a genetic origin is known. This disease can be recessive X-linked. A co-transmission of idiopathic hypoparathyroidism and Fabry's disease is probable in our patient.