research Rheumatoid arthritis and gouty arthritis in an adult patient with Down's syndrome
A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.
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930-960 / 1000+ results research Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malformations
Disrupting β-catenin signaling in certain cells causes anorectal malformations.
research Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I
Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
research P378: Expanding the phenotype of hyper-IgE syndrome: Heterozygous VUS in IL6ST with elevated serum IgE and isolated abscesses
A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases
Some scalp sores are linked to different inherited skin conditions.
research Childhood‐onset systemic lupus erythematosus with trisomy X and the increased risk for bone complications: a case report
A girl with lupus and trisomy X has a higher risk of bone problems like avascular necrosis and osteoporosis.
research Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities
A new syndrome may link skin, growth, mental, and hair issues.
research Type II Vitamin D Dependent Rickets: A Case Report
Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.
research Detection of Type IIHair Keratin Gene in a Family with Monilethrix
A unique gene mutation was found in a family with monilethrix.
research Woolly hair generalizado: caso clínico e revisão da literatura
Woolly hair is a rare genetic condition with no effective treatments.
research Cisd2 deficiency impairs neutrophil function by regulating calcium homeostasis via Calnexin and SERCA
Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
research British Society for Paediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research 42863 The association of milia-like calcinosis cutis, alopecia totalis and hyperthyroidism linked with the novel mutation for RBM28
Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
research The metabolically protective energy expenditure increase ofPik3r1-related insulin resistance is not explained by Ucp1-mediated thermogenesis
Increased energy use in Pik3r1-related insulin resistance isn't due to Ucp1 thermogenesis.
research 43237 Infantile Perianal Pyramidal Protrusion (IPPP): A Retrospective Review of 28 Patients
Recognizing IPPP is crucial to prevent misdiagnosis and unnecessary treatments.
research Table 1_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica effectively.
research The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep
The hr gene is linked to hair loss in Valle del Belice sheep.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research Description of clinical aspects and microscopy of the hair shaft of a carrier of familial monilethrix
Monilethrix causes brittle hair and hair loss, and it runs in families.
research 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Pityriasis rubra pilaris: a rare inflammatory dermatosis
An 18-year-old woman was diagnosed with a rare skin condition called Pityriasis rubra pilaris.
research Partial biotinidase deficiency: Clinical and biochemical features
Children with partial biotinidase deficiency are healthy at birth but may develop symptoms that improve with biotin therapy.
research Congenital Adrenal Hyperplasia
Early diagnosis and treatment of congenital adrenal hyperplasia are crucial to manage symptoms and prevent complications.
research CONGENITAL ATRICHIA.*
Congenital atrichia is a rare condition where children are born without hair, and treatment is often ineffective.
research Familial Dyskeratotic Comedones: A Case Report and Literature Review
Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.
research Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature
The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.