Netherton syndrome (NS) is a rare autosomal recessive genodermatosis in the group of congenital ichthyosis. The clinical manifestations of the syndrome vary from a very mild clinical manifestation ...occurring with the picture of ichthyosis linearis circumflexa to exfoliative erythroderma. It can be fatal in the first days of a newborn's life due to dehydration, hypothermia, weight loss, respiratory infections, and sepsis. A specific anomaly of the hair trichorrexis invaginata is considered pathognomonic for the syndrome. Genetic testing of
gene is key to confirming the diagnosis and starting early treatment.
We present a case report of NS in a 6-year-old boy who suffered from generalized erythroderma and desquamation of the skin from birth. The patient has atopic diathesis, recurrent skin infections, increased levels of IgE, and delayed physical development. Two genetic variants in
gene with clinical significance were identified. The first detected variant is a nonsense mutation, predicted to cause loss of normal protein function either by protein truncation or by nonsense-mediated mRNA decay. The second variant is a likely pathogenic frameshift mutation that truncates the protein in 5 amino acids. The child was treated with acitretin, without satisfactory effect.
The genetic variant we have described correlates with a severe clinical phenotype of NS. The second genetic variant of the
gene, inherited from the father in our case, is novel and has never been published in the literature.
Introduction: The incidence of Squamous cell carcinoma of the skin (SCCs) increases annually, and this process will likely be continued because of sun exposure, outdoor activities and the aging ...population. Objectives: The aim of our study is to analyse clinicohistopathological features, recurrence, metastasis and mortality rates of SCCs in Pleven, Lovech region, Bulgaria. Methods: We investigated 355 patients with histologically confirmed SCCs for the period 2016 – 2022 and carried out a detailed histopathological analysis of 100 tumors. They were divided into two groups according to their macroscopic diameter: with low risk for recurrence and metastases (<20mm) and high – risk (>20mm). We studied the localisation, histological subtype, tumor cell differentiation, microscopic depth of invasion, perineural and lymphovascular invasion, stromal lymphocyte infiltration. Results: We revealed that 73,3% of the patients with SCCs reported severe sunburns, and 1,13% of them underwent immunosuppressive treatment. Head and Neck localisation is the most common – 72,7%. We established a mean histological depth of SCCs of 5,92mm, lymphovascular invasion in 7% and perineural invasion in 5% of the cases. We found that tumors with a macroscopic diameter >20mm have a greater depth of invasion in comparison to SCCs with a smaller diameter. We found an incidence of local recurrence of 4,8%, lymph node metastases at 5,1%, far metastases in internal organs at 2,25% and mortality at 1,97%. Conclusion: Clinicohistopathological features of SCCs with related to recurrence, metastasis and mortality are localisation on the scalp, ears or lips, tumor size >20mm, depth of invasion >6mm, poor tumor cell differentiation, perineural and lymphovascular invasion, low or absent stromal lymphocyte infiltration.
Squamous cell carcinoma of the skin (SCCs) accounts for 20-30% of non-melanoma skin cancers, resulting in 1 million cases in the United States annually. The risk of developing SCCs increases ...annually, and this process will likely be continued because of the aging population. We investigated 355 patients with histopathologically confirmed SCCs. We rated the age- and sex-related incidence, risk factors, localisation, pathological features, staging systems and treatment, and the recurrence and mortality rates of the tumours. Staging and risk stratification for recurrence and metastases is significant. Most SCCs are successfully treated surgically, with a small subset of carcinomas leading to recurrence, metastasis, and death. Patients with advanced and metastatic disease are often inappropriate for surgical and radiation therapy. We present the first study on squamous cell carcinoma of the skin conducted for the population of the Pleven and Lovech regions of Bulgaria.
Purpose: Epidermolysis bullosa pruriginosa (EBP) is a rare clinical subtype of inherited Epidermolysis bullosa dystrophica (EBD). It is characterized by severe itching and hypertrophic papules ...affecting the extensor surfaces of the extremities. Materials and methods: We present a 48 years old woman complaining about intense itching and plaques on the shins, started after mosquito bites. The patient was diagnosed with EBD, by electronic microscopy at the age of 32, because of blisters and painful erosions of the skin, appearing after trauma since birth. She has a daughter with the same skin disease. Results: Pathological skin changes were presented by excoriated erythematous papules and plaques on the lower 2/3 part of the shins. Erythemato-crustous lesions, atrophic scars, hypopigmented macules and milia in the elbows and knees were revealed. Severe toes nail dystrophy was found. The mucous membrane found no pathological changes. The complete blood count and biochemistry were in normal ranges. The microbiological examination found Staphylococcus aureus. The genealogical analysis revealed autosomal-dominant inheritance of the disease. The histopathological examination revealed a large subepidermal blister. On the basis of medical history, status and the results of histopathological and electronic microscopy examinations, the diagnosis EBP was confirmed. Treatment with desloratadine, emollients and topical corticosteroids was started. The patient is being followed up. Conclusion: We presented a rare case of EBP with autosomal-dominant inheritance in a 48 years old woman with the beginning of the pruritus and aggravation of clinical manifestation of the disease after mosquito bites.
