research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
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research Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research Dyad of infantile cutaneous and thymic Langerhans cell histiocytosis: Is it rare?
Thymic LCH may be underdiagnosed, so thymic ultrasound should be considered in infants with cutaneous LCH.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Hair Tourniquet Syndrome Involving the Uvula Secondary to an Airway Foreign Body
Prompt diagnosis and treatment of hair tourniquet syndrome involving the uvula are crucial to prevent severe complications.
research Follicular Hybrid Cyst With Isthmic-Catagen, Pilomatrical, and Syringocystadenoma Papilliferum Components
A rare neck cyst in a 47-year-old man showed diverse skin cell types and was not linked to HPV.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
research Naevus trichilemmocysticus – the first paediatric case of a newly delineated organoid naevus
The first pediatric case of naevus trichilemmocysticus was documented.
research Clinical masks of celiac disease in children: examples from practice
Early diagnosis of celiac disease in children is crucial for effective treatment.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research Laminin-511, inducer of hair growth, is down-regulated and its suppressor in hair growth, laminin-332 up-regulated in chemotherapy-induced alopecia
Chemotherapy-induced hair loss is partly due to decreased laminin-511 and increased laminin-332.
research A comprehensive guide to upper lip aesthetic rejuvenation
Different treatments can make an aging upper lip look younger and better proportioned.
research Scientific Abstracts of 48th Annual conference of AOMSI, Kolkata, 2024
research Rare Association of Congenital Triangular Alopecia with Vitiligo
Congenital triangular alopecia and vitiligo can occur together, but treatment for one may not affect the other.
research Frontoplastia: opção para reconstrução de defeitos na fronte
Forehead reduction surgery can fix forehead defects and improve appearance.
research Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay
Certain genetic variants in keratins increase the risk of tooth decay.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research 1421 Primary cutaneous diffuse large B-cell lymphoma–leg type masquerading as a mucocele
An elderly woman's upper lip lump, thought to be a mucocele, was actually a rare type of lymphoma usually found on legs, treated successfully with chemotherapy and radiation.
research The Influence of Portocaval Shunting on Inner Ear Structures
PCS rats show significant inner ear damage and zinc deficiency, similar to liver cirrhosis patients.
research Odontogenic Keratocysts Arise from Quiescent Epithelial Rests and Are Associated with Deregulated Hedgehog Signaling in Mice and Humans
Odontogenic keratocysts are caused by abnormal Hedgehog signaling and can lead to tooth and bone issues.
research Left Anterior Descendent Coronary Artery Fistula to Main Pulmonary Artery with Triple Vessel Disease:A Report of Two Cases
Two patients with heart issues had successful surgeries and improved symptoms.
research LATERALIZAÇÃO DO NERVO ALVEOLAR INFERIOR COMO ALTERNATIVA A INSTALAÇÃO DE IMPLANTES OSSEOINTEGRADOS NA REGIÃO POSTERIOR DA MANDÍBULA
research Sebaceous carcinoma arising at a chronic candidiasis skin lesion of a patient with keratitis-ichthyosis-deafness (KID) syndrome
A man with KID syndrome developed a rare cancer in a long-term skin infection.
research Multiple iridociliary cysts in patients with mucopolysaccharidoses
Intralesional cidofovir may be a viable alternative treatment for SCC.
research Unilateral keratosis pilaris atrophicans faciei mimicking follicular mucinosis
A 19-year-old man had a rare skin condition on one side of his face that looked like another skin disease.
research The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.
research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
research Delayed Diagnosis of Congenital Imperforate Hymen Resulting in Obstructing Hematometrocolpos
Early diagnosis of imperforate hymen is crucial to prevent complications.