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Seventeen primary malignant neoplasms involving the skin, ovary, esophagus, colon, oral cavity, and ear canal: a case report and review of the literature
Multiple primary malignant neoplasm (MPMN) is a rare disease with two or more malignant neoplasms in one patient. In less than 0.1% of cancer...
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A rare case report of the Cowden syndrome
Cowden syndrome (CS) is a rare autosomal dominant genodermatosis caused by a heterozygous germline mutation in the PTEN gene, found in nearly 80% of...
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Reasons for inpatient dermatological consultation requested by other specialities: a five-year data analysis of 1,052 patients from a Portuguese tertiary teaching hospital
BackgroundThe involvement of a dermatologist in inpatient care can result in accurate diagnosis and prescription of appropriate treatment more...
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A Turkish case of incontinentia pigmenti with a deletion mutation at Inhibitor of kappa B kinase gamma gene
BackgroundIncontinentia pigmenti (IP) is a rare X-linked dominant disorder affecting the skin and other ectodermal tissues that is caused by a...
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Biologic Therapies for the Management of Cutaneous Findings in Genodermatoses: A Review
Genodermatoses are genetically inherited dermatologic conditions. The management of cutaneous findings in genodermatoses is challenging, and...
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Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China
BackgroundHutchinson-Gilford progeria syndrome (HGPS) and progeroid laminopathies (PL) are extremely rare genetic diseases with extremely poor...
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Blunted circadian variation of blood pressure in individuals with neurofibromatosis type 1
BackgroundCardiovascular events such as myocardial infarction and stroke are life-threatening complications associated with Neurofibromatosis type 1...
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Dermoscopy as a Noninvasive Diagnostic Tool for Hailey-Hailey Disease and Darier Disease
IntroductionHailey-Hailey disease (HHD) and Darier disease (DD) are rare genetic disorders for which differential diagnosis, especially in less...
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Evaluation of choroidal thickness and ocular manifestations in lipoid proteinosis
PurposeTo assess choroidal thickness in patients with lipoid proteinosis versus healthy subjects using enhanced depth imaging optical coherence...
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Multidisciplinary Approach to Neurofibromatosis Type 1
This volume offers an update of the clinical signs, diagnostic criteria (including molecular diagnosis) and targeted therapies for a particular type...
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Epidermodysplasia verruciformis: revision of a model of carcinogenic disease
BackgroundThis review addresses current issues regarding epidermodysplasia verruciformis (EV), which are relevant in clinical practice and to...
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A large deletion encompassing exon 2 of the ectodysplasin A (EDA) gene in a British blue crossbred calf with hypohidrotic ectodermal dysplasia
BackgroundHypohidrotic ectodermal dysplasia (HED) is a congenital syndrome of mammals affecting organs and tissues of ectodermal origin characterized...
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Epidemiology and antimicrobial susceptibility of Staphylococcus aureus in children in a tertiary care pediatric hospital in Milan, Italy, 2017—2021
BackgroundMethicillin-resistant Staphylococcus aureus (MRSA) is highly prevalent worldwide and can cause severe diseases. MRSA is associated with...
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Extracellular matrix protein 1 (ECM1) is a potential biomarker in B cell acute lymphoblastic leukemia
B cell acute lymphoblastic leukemia (ALL) is characterized by the highly heterogeneity of pathogenic genetic background, and there are still...
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Netherton syndrome in a Bulgarian patient
Comel–Netherton syndrome, or Netherton syndrome (NS), is a rare chronic genetic skin condition affecting the daily life of patients, which often...
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Dermatologic manifestations in paediatric neurofibromatosis type 2: a cross sectional descriptive multicentric study
BackgroundNeurofibromatosis type 2 (NF2) is characterized by bilateral vestibular schwannoma (VS) more often in adults but a severe paediatric form...
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Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report
BackgroundIncontinentia pigmenti (IP) is an X-liked dominant genodermatosis caused by mutations of the IKBKG / NEMO gene. IP is mostly lethal in males...
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Child with a mild phenotype of Incontinentia Pigmenti and inner retinal dysfunction
PurposeTo describe a case of a child with mild phenotype of Incontinentia Pigmenti (IP), with changes in Spectral-Domain Optical Coherence Tomography...
