Cutaneous borreliosis in children - a challenging problem.

Borreliosis, also known as Lyme disease, is a vector-borne disease caused by different species of the Borrelia burgdorferi complex. It is frequent in Europe and Northern America. The major vectors are ixodoid ticks. Paediatric borreliosis is common and peaks in children between five to nine years. In Europe, the leading symptom of early infection is erythema migrans, in contrast to Northern America where arthritis is the dominating clinical finding. In this review, we focus on Europe, where cutaneous borreliosis is mainly caused by infection with B. afzelii. The cutaneous symptoms include erythema migrans, lymphocytoma, chronic atrophic dermatitis and juxta-articular nodules. In children, lymphocytoma is very common but chronic atrophic dermatitis is rare. Clinical symptoms, diagnosis, peculiarities of childhood disease and treatment are also reviewed. It is important to note that after haematogeneic spread, signs of infection may be non-specific, and this is a challenge for diagnosis.

Scabies in infants and children - a narrative review.

Scabies is a human ectoparasitosis caused by Sarcoptes scabei var. hominis. World-wide around 300 million patients are affected. Infants and children have the highest incidence rates. Poverty and overcrowding are social factors contributing to a higher risk of transmission and treatment failure. The leading symptom of the infestation is itch. Complications are bacterial infections that are responsible for mortality. Diagnosis is clinical. Non-invasive imaging technologies like dermoscopy can be used. Polymerase chain reaction (PCR) is less sensitive and specific than microscopy of skin scrapings. Treatment of choice is topical permethrin 5%. Ivermectin is the only oral drug FDA-approved for scabies. It should be used in cases non-responsive to topical therapy and in case of high number of infested patients in addition to topical therapy. Pseudo-resistance to treatment is not uncommon. New drugs are on the horizon. What is Known: • Pruritus is the leading symptom causing sleep disturbances and scratching with the risk of secondary bacterial infections. • Treatment failure is related to inappropriate application of topical drugs and asymptomatic family members. What is New: • COVID-19 pandemic and migration are contributing to an increased incidence of scabies. • New compounds to treat scabies are on the horizon.

Kerion Celsi in infants and children-A narrative review 2010-2023.

Kerion Celsi is an inflammatory, deep fungal infection of the scalp. It is rare in neonates but gets more common in children about 3 years and older. It represents with swelling, boggy lesions, pain, alopecia and purulent secretions. Secondary bacterial infection is not unusual after maceration. Extracutaneous manifestations include regional lymphadenopathy, fever and very rare fungemia. Id-reactions can occur. Diagnosis is based on clinical suspicion, clinical examination and medical history. Diagnosis should be confirmed by microscopy, fungal culture and molecular procedures. The most common isolated fungal species are anthropophilic Trichophyton (T.) tonsurans and zoophilic Microsporum (M.) canis, while geophilic species and moulds rarely cause Kerion Celsi. Treatment is medical with systemic and topical antifungals supplemented by systemic antibiotics when necessary, while surgery needs to be avoided. Early and sufficient treatment prevents scarring alopecia. The most important differential diagnosis is bacterial skin and soft tissue infections.

Achenbach Syndrome - Case Report and Discussion on the Interdisciplinary Approach of a Patient.

We present a case of Achenbach syndrome, which is an alarming disease for both patients and physicians, although it is a rare, benign and self-limiting disorder. It is also reported as "paroxysmal finger haematoma", but the majority of cases are misdiagnosed, and unnecessarily investigated and treated.

Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.

Mutations in genes encoding for desmosomal components are associated with a broad spectrum of phenotypes comprising skin and hair abnormalities and account for 45-50% of cases of arrhythmogenic right ventricular cardiomyopathy. Today, more than 120 dominant and recessive desmoplakin (DSP) gene mutations have been reported to be associated with skin, hair and/or heart defects. Here we report on 3 cases with yet unreported DSP mutations, c.7566_7567delAAinsC, p.R2522Sfs*39, c.7756C>T, p.R2586*, c.2131_2132delAG and c.1067C>A, p.T356K, that were associated with variable woolly hair or hypotrichosis, palmoplantar keratoderma, and cardiac manifestations. In addition, we review and summarise the clinical features and DSP mutations of the patients described in the literature, which illustrates the complexity of this group of disorders and of their genotype-phenotype correlations, which cannot be easily predicted. Early diagnosis is crucial and cardiac examinations have to be performed on a regular basis.

Histopathologic features of Spitzoid lesions in different age groups.

Spitz nevus is one of the most difficult melanocytic lesions to diagnose in regard of malignancy, even for experienced dermatopathologists. We analyzed 28 tumors with Spitzoid morphology from 15 children (three little children 2-4-year-old, 12 peripubertary children 9-17-year-old) and 13 adults; there were 21 Spitz nevi, five atypical Spitz tumors and two Spitzoid melanomas in order to establish the diagnostic value of several morphologic parameters in different age groups. No significant differences in respect of age and/or tumor type occurred for gender, location, dimension, symmetry, sharp lateral demarcation, junctional nests orientation, adipose tissue extension, side-to-side cytologic symmetry, uniform melanin deposits, nuclear pleomorphism, presence of mitoses, inflammation and epidermal alterations. Pagetoid growth and/or melanin deposits in the keratin layer were significantly higher in little children. In adults, presence of isolated cells within the lateral margins allows differentiating Spitz nevus from atypical Spitz tumor and Spitzoid melanoma. Deep located mitoses were statistically associated with Spitzoid melanoma in adults. Ulceration was statistically more frequent in peripubertary patients than in adults, probably due to trauma. In conclusion, presence of worrisome morphologic features (pagetoid growth, isolated cells within the lateral margins or ulceration) is correlated to patient's age and less to tumor type; there is no unique morphologic feature to relay on when evaluating a Spitzoid tumor, the final diagnosis being the results of interpretation of multiple clinical, morphologic, immunohistochemical and molecular data and not least dermatopathologist's personal experience.

Evaluation of 5-alpha reductase activity on cultured fibroblast in patients with hyperandrogenemia.

The enzyme steroid 5-alpha reductase is responsible for the conversion of testosterone to dihydrotestosterone, the steroid that mediates the intracellular action of androgens in some target tissues. The goal of this study was to check the accuracy of three known biochemical methods of studying steroid 5-alpha reductase activity expressed by dermal fibroblasts, isolated from pubian skin. These methods were performed on cell lysates (spectrophotometric and spectrofluorimetric methods) and on cell culture media (Reversed Phase-HPLC) with the purpose of their use in diagnosis and monitoring of hyperandrogenic patients. We also optimized a molecular study of expression of 5-alpha reductase isoenzymes and used it in the analysis of patients diagnosed with polycystic ovary syndrome (PCOS) and hirsutism by comparison with normal women. There was noticed an increase of the isoenzyme expression level both in patients with PCOS and in the case of patients with hirsutism. In other experiments, dermal fibroblasts originating in 15 individuals were treated with androgen hormones (testosterone: 10(-7) - 10(-9) M) with the purpose of demonstrating the effect of hyperandrogenemia on the expression level of 5-alpha reductase isoenzymes. The study of 5-alpha reductase type 1 mRNA expression levels in fibroblasts resulted from 4 normal individuals, 3 patients with hirsutism and 6 patients with PCOS, demonstrated an increase with 108.3% at the patients with PCOS and 47.3% at the patients with hirsutism compared with normal women. We concluded that hyperandrogenemia is associated with high levels of expression of 5-alpha reductase type 1 and, to a less extent, of type 2 isoenzyme in pubian skin cultured fibroblasts.