research FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
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930-960 / 1000+ results research Diagnosis by Hair Sample:A Rare Case of Netherton Syndrome in a 2-Year-Old Girl
Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
research Perinevoid Alopecia and Concentric Regrowth: Two Atypical Patterns of Alopecia Areata
Recognizing perinevoid alopecia and concentric regrowth is important for diagnosing and treating alopecia areata.
research Uncombable hair in a case of Zellweger syndrome – A new association
Uncombable hair syndrome is linked to Zellweger syndrome.
research Rickets and Alopecia with Resistance to 1,25-Dihydroxyvitamin D: Two Different Clinical Courses with Two Different Cellular Defects*
Patients with this syndrome can have different responses and worsening resistance to treatment over time.
research Case Report: A case of Rothmund–Thomson syndrome-like phenotype with an ANAPC1 variant of uncertain significance and observed hair improvement
The patient's hair improved after treatment, but the genetic link is unclear.
research Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Alopecia in vitamin D-dependent rickets type II responding to 1α-hydroxycholecalciferol
A boy's hair loss and bone issues improved with specific vitamin D treatment and calcium.
research Pityriasis versicolor on the scalp: An unusual distribution of a common disease
A boy's scalp infection, usually found on the body, was effectively treated with antifungal cream.
research Acquired Acrodermatitis Enteropathica in a 28-Year-Old Male with Type 1 Diabetes
A 28-year-old man with type 1 diabetes had skin and hair issues due to zinc deficiency.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Cutaneous Focal Mucinosis: A Case Report
A rare skin condition in children can look like other diseases.
research Schimmelpenning syndrome with dydimosis aplasticosebacea in a one-month-old girl
Older men's scalp damage increases with age and sun exposure, a baby girl in the Philippines has Schimmelpenning syndrome, and thyroid screening is advised for children with hair loss and certain risk factors.
research Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
research Novel variant in WNT10A caused short anagen hair syndrome in a Chinese pedigree
A new change in the WNT10A gene caused a condition leading to short hair growth in a Chinese family.
research A rare coexistence of alopecia areata and lichen planus
A man had both alopecia areata and lichen planus, which is uncommon.
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research Ponatinib-induced pityriasis rubra pilaris-like adnexal dysmaturation: A case report
Ponatinib can cause a rare skin reaction that resolves with topical treatment and temporary drug discontinuation.
research Combined Alopecia Areata and Acquired Hypertrichosis Lanuginosa in Celiac Disease- A Rarest Phenomenon
A rare combination of hair loss and excessive fine hair growth was found in celiac disease patients.
research Trichothiodystrophy hair shafts display distinct ultrastructural features
Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
research A patient with combined polycystic ovary syndrome and autoimmune polyglandular syndrome type 2
A woman was the first known case to have both polycystic ovary syndrome and autoimmune polyglandular syndrome type 2, suggesting a need to check for both conditions in similar patients.
research Acquired progressive kinking of hair affecting the scalp and eyelashes in an adult woman
A woman developed rare, unexplained curly hair on her scalp and eyelashes.
research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
research Congenital alopecia areata: a systematic review
Congenital alopecia areata may be genetic, and topical corticosteroids often help regrow hair.
research Alopecia in children
Most hair loss in children is caused by a few common conditions and is easy to diagnose, but rare types require careful evaluation.
research Congenital triangular alopecia: A close mimicker of alopecia areata
CTA is often mistaken for AA but doesn't respond to steroids and may require hair transplantation.
research Ichthyosis linearis circumflexa in a child. Response to narrowband UVB therapy.
Narrowband UVB therapy significantly improved a child's rare skin condition.
research Congenital Triangular Alopecia (Brauer Nevus)
Congenital Triangular Alopecia is a rare, non-scarring hair loss that can be surgically treated in females for cosmetic reasons.
research ROLLED HAIRS AND HYPERTRICHOSIS
A 15-year-old girl with hypothyroidism had excess hair and skin issues due to blocked hair follicles.