research Woolly Hair in Two Siblings
Two siblings have a rare genetic condition causing curly, coarse hair.
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research Immunotherapies
A woman's hair loss was likely caused by a cream used for skin treatment and improved after she stopped using it.
research Erosive pustulosis of the scalp:3 Cases (Fren)
Oral zinc gluconate and topical steroids significantly improved a rare scalp condition in three elderly patients.
research 정상 및 배양 피부 , 수종 각화이상성 피부질환에서의 Skin Sulfhydryl Oxidase 발현에 관한 연구
SSO helps in skin protection and keratinization.
research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research Phenotypic variability associated withWNT10Anonsense mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
research Distribution of keratin and associated proteins in the epidermis of monotreme, marsupial, and placental mammals
Monotreme and marsupial skin proteins show primitive features and species-specific differences compared to placental mammals.
research The twisting tale of woolly hair: a trait with many causes
New genes linked to woolly hair have been found, which could help treat it and change hair texture.
research Pityriasis rubra pilaris: A study evaluating patient quality of life in 2 populations
Pityriasis rubra pilaris significantly worsens quality of life more than many other health conditions.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Lichen Spinulosus: Case Report and Review of Literatures
A 12-year-old boy's rare skin condition improved with topical treatments and may resolve by puberty.
research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
research Resolution of the plantar hyperkeratosis of pachyonychia congenita during chemotherapy for Ewing sarcoma
Chemotherapy improved a girl's painful foot condition linked to pachyonychia congenita.
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 When Rare Meets Risky: Clouston Syndrome with Cutaneous Squamous Cell Carcinoma
Clouston syndrome can lead to skin cancer, so monitoring is crucial.
research Ectodermal Dysplasia: Variable Expressions
Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
research Surgical Management of Severe Cicatricial Ectropion Secondary to Pityriasis Rubra Pilaris.
Surgery can effectively treat severe eyelid turning out caused by a rare skin disorder.
research Clouston’s Syndrome-A Case Report
Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
research A rare case of ovarian teratoma in a 15-year-old labrador bitch
A 15-year-old female labrador had a large ovarian tumor removed.
research KRT16 wt Allele
Mutations in the KRT16 gene can cause skin and nail disorders.
research Cirmcumscribed juvenile pityriasis rubra pilaris in a 5-year-old-girl treated with topical keratolytic and steroid
A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.
research STUDY OF CUTANEOUS MANIFESTATIONS IN THYROID DISORDERS
Skin problems are common in thyroid disorders, with dry skin in hypothyroidism and warm, soft skin in hyperthyroidism.
research Reversible Activation of c-Myc in Skin
Activating c-Myc in skin causes rapid cell growth and changes, but these effects are reversible.
research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research A case of cicatricial alopecia associated with pemphigus: a case report
The link between pemphigus and the patient's scarring hair loss is still unclear.
research [Wooly hair syndrome. Clinical and microscopic study].
Woolly hair syndrome is a genetic condition causing frizzy, fragile hair.