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.
Kindler Syndrome (KS) is a rare genodermatosis characterized by skin fragility, skin atrophy, premature aging and poikiloderma. It is caused by mutations in the FERMT1 gene, which encodes kindlin-1, ...a protein involved in integrin signalling and the formation of focal adhesions. Several reports have shown the presence of non-melanoma skin cancers in KS patients but a systematic study evaluating the risk of these tumors at different ages and their potential outcome has not yet been published. We have here addressed this condition in a retrospective study of 91 adult KS patients, characterizing frequency, metastatic potential and body distribution of squamous cell carcinoma (SCC) in these patients. SCC developed in 13 of the 91 patients.
The youngest case arose in a 29-year-old patient; however, the cumulative risk of SCC increased to 66.7% in patients over 60 years of age. The highly aggressive nature of SCCs in KS was confirmed showing that 53.8% of the patients bearing SCCs develop metastatic disease. Our data also showed there are no specific mutations that correlate directly with the development of SCC; however, the mutational distribution along the gene appears to be different in patients bearing SCC from SCC-free patients. The body distribution of the tumor appearance was also unique and different from other bullous diseases, being concentrated in the hands and around the oral cavity, which are areas of high inflammation in this disease.
This study characterizes SCCs in the largest series of KS patients reported so far, showing the high frequency and aggressiveness of these tumors. It also describes their particular body distribution and their relationship with mutations in the FERMT-1 gene. These data reinforce the need for close monitoring of premalignant or malignant lesions in KS patients.
Contact dermatitis is an acute or chronic inflammatory reaction in response to substances coming into contact with the skin. Differentiating between irritant contact dermatitis and allergic contact ...dermatitis in practice, as well as finding the exact causative agent from the environment, often pose a challenge to the clinician. We present a case of contact dermatitis in a 9-year-old child caused by modeling clay (plasticine) and slime. The treatment with local corticosteroids and emollients and the discontinuation of contact with the identified insulting agents lead to a goodherapeutic result.
Key Clinical Message
High‐dose intravenous immunoglobulin exhibits great potential in the treatment of Netherton syndrome.
Netherton syndrome (NS) is a rare autosomal recessive genodermatosis (OMIM ...#256500) characterized by superficial scaling, atopic manifestations, and multisystemic complications. It is caused by loss‐of‐function mutations in the SPINK5 gene, which encode a key kallikrein protease inhibitor. There are two subtypes of the syndrome that differ in clinical presentation and immune profile: ichthyosiform erythroderma and ichthyosis linearis circumflexa. NS is a multisystemic disease with numerous extracutaneous manifestations. Current therapy for patients with NS is mainly supportive, as there is no curative or specific treatment, especially for children with NS, but targeted therapies are being developed. We describe an 8‐year‐old boy with genetically proven NS treated with intravenous immunoglobulin for recurrent skin and systemic infections from infancy, growth retardation, and associated erythroderma. Under this therapy, his skin status, infectious exacerbations, and quality of life all improved. Knowledge of the cytokine‐mediated pathogenesis of NS and the development of new biologic drugs open new possibilities for NS patients. However, the different therapeutic options have been applied in a limited number of cases, and variable responses have been shown. Randomized controlled trials with a sufficient number of patients stratified and treated according to their specific immune profile and clinical phenotype are needed to evaluate the safety and efficacy of treatment options for patients with NS.
Combination between Leucocytoclastic vasculitis and Subacute cutaneous lupus erythematosus has been only rarely reported in the literature. Pathological cutaneous lesions are presented by purpura, ...erythematous macules, urticarial, nodules and necroses.We present a 58-year-old woman with painful nodular lesions on the left thigh.The disease started in June 2015 with photosensitivity and psoriasiform rashes on the back. Pathological cutaneous changes affected lateral and dorsal surface of the left thigh. It was presented by painful, indurated in base, ulcerative plaques, with unclear borders and necrotic surface. There were no deviations from complete blood count and biochemistry. Immunological investigations revealed elevated levels of MPO(рАNCA) – 1.38 U/ml, antinuclear antibodies (ANA)- 134.1 U/ml, SS-A(Ro) antibodies – 233.7 U/ml CRP- 12.7mg/l. Urine analysis revealed positive protein results.Escherichia coli was isolated from microbiology testing. Histopathological result from ulcerative lesions from the left thigh of the patient revealed necrotizing leukocytoclastic vasculitis. The result from direct immunofluorescence microscopy of lesional skin corresponded to lupus erythematosus.The diagnosis lupus vasculitis was made. Systemic therapy with chloroquine phosphate, methylprednisolone, methotrexate was administered. Topical treatment included proteolytic enzyme in dressings and vacuum therapy with good effect.
IgA LINEAR BULLOUS DERMATOSIS IN CHILDHOOD Yordanova, Ivelina; Valtchev, Valentin; Gospodinov, Dimitar ...
Journal of IMAB,
12/2015, Letnik:
21, Številka:
4
Journal Article
Odprti dostop
IgA linear bullous dermatosis, also known as chronic bullous dermatosis of childhood, is an autoimmune disease which may be idiopathic or drug-induced. The disease affects children and adults. We ...present a 4 years old girl with itchy polymorphic eruptions. The skin rash was presented by bullous-erosive rosette-like lesions with reddish-brown crust in the center, distributed on the skin of the face, trunk and extremities. The vesicles were filled with serous and hemorrhagic content. Laboratory examinations were within normal values according the age. Histopathological examination of the lesional skin revealed sub epidermal blister. Direct immunofluorescence of perilesional skin demonstrated linear deposition of IgA in the basement membrane. Systemic treatment with Methylprednisolon and Claritromycin was applied with satisfactory effect. The patient is under observation.
Herpes gestationis, also known as pemphigoidgestationis (PG) is an extremely rare autoimmune bullous dermatosis of the gestation and postpartum period. The disease was originally named herpes ...gestationis on the basis of the morphological herpetiform feature of the blisters. We report a 21-year-old woman, pregnant in the third trimester, who presented with a pruritic bullous cutaneous eruption of two weeks duration. The disease started with a red plaque in the abdominal area accompanied by mild itching. Soonafter, blisters appeared and affected almost the entire body. Physical examination revealed a primiparous woman in good general state, pregnant in 36 weeks of gestation. The skin changes affected the abdomen, back of the trunk, upper and lower extremities, hands and feet. They were manifested by a polymorphous eruption, consisting of erythematous urticaria-like plaques, small tense vesicles and multiple excoriations. Mucous membranes were not affected. Routine laboratory examinations were within normal limits. Direct immunofluorescence (DIF) on perilesional skin showed linear deposition of IgG (++) and C3 (++) at the cutaneous basement membrane zone (BMZ). Indirect immunofluorescence (IIF) on human esophagus substrate revealed circulating IgG anti-BMZ antibodies at a titer of 1:80. ELISABP180 NC16A was strongly positive. The diagnosis of PG was confirmed and a treatment with systemic methylprednisolone 60 mg/day was initiated, later gradually tapered to 20 mg/day, together with topical corticosteroids. As a result on the 10th day of the treatment we already achieved significant improvement with reduction of erythema and itching, absence of new skin lesions. The pregnancy ended in term with successful childbirth. No flare of the skin disease was observed in the puerperal period.
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