research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
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240-270 / 1000+ resultsresearch Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene
Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
research Soft-tissue calcification in systemic lupus erythematosus
Soft-tissue calcification is rare in systemic lupus erythematosus.
research Kératose pilaire
Keratosis pilaris causes small skin bumps, mainly in women, and treatments offer only temporary relief.
research Integrative Comparison of the Role of the PHOSPHATE RESPONSE1 Subfamily in Phosphate Signaling and Homeostasis in Rice
OsPHR3 can help breed rice that efficiently uses phosphate without growth issues.
research Prepubertal pattern hair loss
Children under 10 can experience hair thinning without hormone issues, and it may improve with treatment.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research GP85 The irish experience in paediatric parry romberg syndrome- a case series highlighting management and surgical outcomes
Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
research A Phase 1, Open‐Label Study of the Pharmacokinetics of Ritlecitinib in Children Aged 6–12 Years With Alopecia Areata
Ritlecitinib was generally well tolerated in children with alopecia areata.
research Case 4-2012
Early diagnosis and treatment of TPP can prevent complications.
research A Rare Case of Biotinidase Deficiancy
An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
research Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research The role of vitamin D receptor mutations in the development of alopecia
Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research A General Paediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report
Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
research A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
research Psoriasiform Lesions and Abscesses as Initial Manifestations of Severe Hypothyroidism in a Previously Healthy 15‐Year‐Old Girl
Severe hypothyroidism can cause unusual skin problems that improve with thyroid treatment.
research Alkaline Phosphatase in Alopecia Areata
Alkaline phosphatase activity decreases in early alopecia areata.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Growth hormone deficiency with late-onset hypothalamic hypoadrenocorticism associated with respiratory and renal dysfunction: a case report
A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.
research Ligand‐independent Regulation of the hairless Promoter by Vitamin D Receptor†
Vitamin D receptor can control the hairless gene linked to hair loss even without vitamin D.
research Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
research Follicular Keratosis of the Chin Treated with 1.24R‐Dihydroxyvitamin D3 Ointment
Vitamin D3 ointment improved skin bumps on the chin but didn't give lasting results after stopping use.
research ‘Disappearing Foot Disease’: An Unusual Presentation of Primary Lymphoma of Bone
An elderly woman's swollen, painful foot was found to be caused by a rare type of bone lymphoma, which improved with radiation treatment.
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.