Onycho

Shabbir Syndrome or commonly known as Laryngo-onycho-cutaneous syndrome (LOCS) is an autosomal recessively inherited syndrome, caused due to mutations in the laminin alpha-3 (LAMA3) gene. This syndrome affects the epidermal layer and results in granulation formation in the eyes, larynx, and nails. One of the most dreadful complications of this syndrome can be due to granulation formation in the larynx or sub-glottis region resulting in laryngeal stenosis and death. According to the latest Online Mendelian Inheritance in Man (OMIM) classification, LOCS has been reclassified as a subtype of Junctional epidermolysis bullosa (JEB)...

Junctional epidermolysis bullosa (JEB) is a rare autosomal recessive genodermatosis with a broad spectrum of phenotypes. Current genotype-phenotype paradigms are insufficient to accurately predict JEB subtype and characteristics from genotype, particularly for splice site mutations, which account for over a fifth of disease-causing mutations in JEB. This study evaluated genetic and clinical findings from a JEB cohort, investigating genotype-phenotype correlations through bioinformatic analyses and comparison with previously reported mutations...

No abstract text is available yet for this article.

OBJECTIVE: To identify genetic causes of Shabbir syndrome in two patients of Pakistani origin. METHODS: In the present study, we have investigated a Pakistani family with two affected members segregating Laryngo-onycho-cutaneous (LOC) syndrome. The patients were diagnosed as suspected cases of LOC based on phenotypes including abnormal larynx, nails, and hyperpigmentation in patients' eyes. Genetic investigation was done by performing whole exome sequencing (WES) using DNA of the patients...

Onychomycosis is the most prevalent nail ailment in adults, accounting for 50% of all nail infections. Dermatophyte fungi are the primary cause, but non-dermatophyte molds (NDM) and yeasts can also cause onychomycosis. It remains important to precisely determine the fungal cause of onychomycosis since the response to current treatments may vary between fungal classes. Real-time polymerase chain reaction (qPCR) has become a widespread tool for detecting fungal organisms for diagnosis due to its sensitivity and ability to detect down to the species level...

BACKGROUND: Onychomycosis,the most common cause of nail dystrophy is generally diagnosed by clinical examination. Current guidelines for Dutch general practice advise confirmatory testing onlyin case of doubt or insufficient response to treatment. However, making a correct diagnosis can be challenging given the wide variety of clinical features and differential diagnosis. AIM: To establish accuracy of clinical diagnosis of onychomycosis by general practitioners (GPs)...

The goal of this study was to identify the pathogenic gene variants in patients with odonto-onycho-dermal dysplasia syndrome (OODD) or nonsyndromic tooth agenesis. Four unrelated individuals with tooth agenesis and their available family members were recruited. Peripheral blood was collected from four probands and five family members. Whole-exome sequencing (WES) and Sanger sequencing were used to identify the pathogenic gene variants. The harmfulness of these variations was predicted by bioinformatics. We identified four biallelic variants of the WNT10A gene in four patients, respectively: the proband#660: c...

Epidermolysis bullosa simplex (EBS) with plectin mutations is a very rare subtype of EB usually associated with pyloric atresia (PA) or muscular dystrophy (MD). We report six unrelated children between ages 4 and 14 years from India with varied clinical manifestations. Only one had PA, and none has developed MD to date. All except the one with PA presented with early onset blistering along with laryngeal involvement in the form of hoarseness of voice and nail involvement. Patient with PA presented with aplasia cutis and died in the first week...

Cutaneous, mucosal, and nail examination is the key to unveiling a plethora of systemic diseases. Mucocutaneous lesions directly related to human immunodeficiency virus (HIV) infection usually present as initial manifestations of immune deficiency, of which few lesions act as predictors of an immunocompromised state. Here, we report two cases who presented with onycho-mucocutaneous symptoms which raised the suspicion of and invariably led to the diagnosis of an underlying immunosuppression secondary to HIV infection...

Pleomorphic onychomatricoma is a rare condition mimicking malignant neoplasms. Given its rarity, the diagnostic and prognostic criteria of this condition are not well established. The aim of this study was to characterize a series of 6 cases of pleomorphic onychomatricoma. In 3 cases the submitting clinical diagnosis was subungual squamous cell carcinoma. For all 6 cases, nail clipping showed typical features of onychomatricoma as a free-edge thickening and pitting of the nail plate with an additional feature of projecting line pattern...

BACKGROUND/OBJECTIVES: Laryngo-onycho-cutaneous syndrome (LOC) is a rare subtype of junctional epidermolysis bullosa (JEB), featuring aberrant granulation tissue formation in the skin, larynx, and eyes. So far, three mutations including the specific (founder) mutation in exon 39 of LAMA3 (c.151dup) have been identified, but sparse data exists regarding the natural history, the genotype-phenotype correlation, and its differentiation from other JEB types. METHODS: We reviewed our pediatric EB database to identify English children with clinical and genetically diagnosed LOC within the last 15 years...

The ectopic nail (EN) is an additional nail located in an abnormal site. It belongs to the onycho-heterotopia, a rare condition whose pathogenesis is indeterminate. This article illustrates the clinical-morphological and dermoscopic points of view, the diagnostic criteria, the possible pathogenesis, and surgical treatment of this pediatric onycho- heterotopia.

BACKGROUND: Toe-to-hand transfer is a favorable option for finger reconstruction, but donor site healing can be challenging. The superficial circumflex iliac artery perforator (SCIP) flap has yet to be used widely for toe reconstruction. The purpose of this report was to validate the efficacy of the sequential simultaneous free SCIP flap transfer for the toe flap donor site in a consecutive case series. METHODS: The medical records of 18 consecutive patients who underwent a simultaneous SCIP flap transfer and a toe-to-hand transplant were reviewed...

Psoriatic onycho-pachydermo periostitis (POPP) is characterized by psoriatic onychodystrophy, connective tissue thickening, and periostitis of the distal phalanges (DPs), producing a drumstick-like deformity. Our aim was to present the first case of POPP treated successfully with an IL-17 inhibitor, perform a literature review of its characteristics and treatment, and explore the possible pathogenesis. We conducted a systematic review of previously presented POPP cases. We present a patient with methotrexate (MTX)-resistant treatment POPP, who had significant resolution of symptoms and inflammatory lesions on post-treatment MRI with secukinumab 150 mg...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

A 29-year-old male patient presented with a history of voice change and feeling of a lump in throat for the last 20 years. He was tracheostomised at the age of 10 years. Endolaryngeal examination showed a mucosal bulge in supraglottic region arising predominantly from right side. He had multiple healed scar marks on neck, arms and elbows, and had dystrophic nail changes. MRI of the neck showed a supraglottic cyst covering glottis. The patient was diagnosed as a case of laryngo-onycho-cutaneous syndrome which is also known as Shabbir syndrome...

No abstract text is available yet for this article.

PURPOSE: To report a case of Laryngeal Onycho Cutaneous Syndrome in a 10 year old child presenting with an ocular surface mass. METHODS: A 10 year old boy presented in the out-patient department with a painless mass in left eye. There was history of airway obstruction requiring tracheotomy in early childhood and recurrent skin ulcerations. Aslit lamp examination revealed fleshy mass arising from the supero-nasalconjunctiva of left eye. Systemic examination revealed ulcerative lesions on cheeks and ears with dystrophic nails in hands and feet...

Odonto-onycho-dermal dysplasia (OODD) is a rare autosomal recessive syndrome characterized by multiple ectodermal abnormalities. Mutations of the wingless-type MMTV integration site family member 10A (WNT10A) gene have been associated with OODD. To date, only 11 OODD-associated WNT10A mutations have been reported. In this report, we Characterized the clinical manifestations with focusing on dental phenotypes in four unrelated OODD patients. By Sanger sequencing, we identified five novel mutations in the WNT10A gene, including two homozygous nonsense mutations c...