research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
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870-900 / 1000+ resultsresearch 43237 Infantile Perianal Pyramidal Protrusion (IPPP): A Retrospective Review of 28 Patients
Recognizing IPPP is crucial to prevent misdiagnosis and unnecessary treatments.
research Nonclassic adrenal hyperplasia
Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
research Acne Keloidalis Nuchae
AKN might be a skin marker for metabolic syndrome.
research Pathologic Quiz Case: An Anterior Neck Mass in a 5-Month-Old Female Infant
The neck mass was a rare benign "wattle," surgically removed for diagnosis and appearance.
research Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia
High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
research Ichthyosis linearis circumflexa with bamboo hair: challenges in the diagnosis and management
A 15-year-old boy's skin and hair condition worsened due to improper treatment, leading to severe health issues.
research Clinical Spectrum of Cutaneous, Ocular, and Hair Manifestations in Patients With Inborn Errors of Immunity: Insights From a Single Center in Turkey
Recognizing unusual skin, eye, or hair issues can help diagnose immune system disorders early, especially in children.
research Alopecia Universalis in an Adolescent Successfully Treated with Upadacitinib—A Case Report and Review of the Literature on the Use of JAK Inhibitors in Pediatric Alopecia Areata
A 14-year-old girl with severe hair loss regrew her hair using upadacitinib.
research Nonfebrile Seizures in Pediatrics: Key Points to Remember
Early diagnosis and treatment of hereditary vitamin D-resistant rickets (HVDRR) are crucial to prevent growth issues and other health problems.
research Diagnostic dilemma: Multiple Autoimmune Syndrome versus incomplete Graham-Little-Piccardi-Lassueur Syndrome overlap mixed connective tissue disease
The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
research Generalized trichorrhexis nodosa
The hair disorder was caused by abnormal protein formation, making hair easily damaged.
research 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
research Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
research Baricitinib-Induced Remission of Alopecia Universalis in a Child with NFKB2-Associated Immune Dysregulation
research Two‐Year Follow‐Up of Ectodermal Dysplasia‐Syndactyly Syndrome 1 in a Palestinian Child Successfully Treated With Topical Minoxidil and Tretinoin: A Case Report
Topical minoxidil and tretinoin improved hair growth in a girl with EDSS1 over two years.
research Ectopic acanthosis nigricans at a post-syndactyly surgical site: An unusual reactive epidermal phenomenon
Ectopic acanthosis nigricans can occur at surgical sites due to skin graft mismatches.
research Disorders of pigmentation in infants and children
Vitiligo causes white skin patches, often starts before age 20, and is linked to other health issues.
research Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
research Phénylcétonurie de l’adulte : manifestations neurologiques et modalités évolutives
Proper diet management is crucial for preventing severe symptoms in phenylketonuria.
research 9. Immunology and Genetics
The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
research Temporal triangular alopecia and a review of 52 past cases
Most cases of Temporal Triangular Alopecia are found in early childhood and may be related to genetic conditions.
research Autoantibodies in Pediatric SLE: Cluster Analysis and Clinical Associations, a Single Centre Cohort Study
Different autoantibody groups in pediatric SLE are linked to specific symptoms and disease outcomes.
research Erythromelanosis Follicularis Faciei et Colli: A Case Report in a Caucasian Male and Brief Review of the Literature
A rare skin condition causes red, dark, bumpy facial lesions.
research Ocular manifestations in a case of Kallmann syndrome – An interesting case report on isolated gonadotropin-releasing hormone deficiency
Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.
research An Australian family with macular dystrophy linked to autosomal recessive alopecia universalis
An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
research Late onset nevus comedonicus of scalp: a rare site for an uncommon condition
A rare skin condition appeared on a 19-year-old woman's scalp.
research Pediatric dermatoses pattern at a Brazilian reference center
Inflammatory skin conditions are the most common in Brazilian children, with atopic dermatitis being the top issue.
research ALOPECIA TRIANGULAR CONGÉNITA BILATERAL EN UN NEONATO: REPORTE DE CASO
The condition is harmless, doesn't worsen, and needs no invasive treatment.
research Acrodermatitis dysmetabolica in an infant with maple syrup urine disease
Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.