research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.
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research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research Susceptibility variants for male-pattern baldness on chromosome 20p11
research Becker's Nevus Syndrome
Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
research Hypotrichosis in a child with olmsted syndrome
A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research Moniletherix
Monilethrix causes short, fragile hair with no specific treatment available.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research Androgenetic alopecia and metabolic syndrome: A cross-sectional study in Northeast India
Androgenetic alopecia may predict metabolic syndrome, so routine screening is recommended to prevent cardiovascular issues.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research Management Approaches to Congenital Adrenal Hyperplasia in Adolescents and Adults; Latest Therapeutic Developments
Glucocorticoid and mineralocorticoid therapy effectively manage Congenital Adrenal Hyperplasia symptoms but have limitations.
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 Deficiency of kinase suppressor of Ras1 prevents oncogenic ras signaling in mice.
Lack of KSR1 stops certain skin tumors in mice.
research An autopsy case of unicentric C astleman's disease associated with bronchiolitis obliterans
A woman with Castleman's disease died from respiratory failure due to bronchiolitis obliterans.
research Case Report: ACTH- and CRH-secreting pheochromocytoma as a very rare cause of ectopic Cushing syndrome
A rare tumor caused unusual hormone production leading to Cushing syndrome.
research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
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 Beta thalassemia revealing hypothyroidism: A case report
Frequent blood transfusions in beta thalassemia patients can lead to thyroid problems.
research Loose Anagen Hair as a Cause of Hereditary Hair Loss in Children
Loose Anagen Hair Syndrome is a hereditary condition causing hair loss in children due to abnormal hair follicles.
research 8800 A Case of Hypopituitarism Due to Sheehan Syndrome
Sheehan syndrome can cause hormone deficiencies after childbirth, but treatment can improve symptoms.
research Pili Annulati
The patient's hair has unique structural differences with alternating bright and dark bands.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research A Case of the Cons: How Contraception Confused Congenital Adrenal Hyperplasia for Conn
Drospirenone can hide symptoms of certain hormonal disorders, complicating diagnosis.
research A rare case of Cushing syndrome with virilization
A 10-year-old girl's symptoms improved after surgery to remove a benign adrenal tumor.
research Is androgenetic alopecia a marker of arrhythmia?: A case-control study
Men with androgenetic alopecia may have a higher risk of heart rhythm problems.
research Adams–Oliver syndrome: new evidence in variable expressivity?
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research Odd-Looking Hair and Progressive Alopecia in Mother and Son
Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
research Case of Waldenstrom Macroglobulinaemia Mimicking Multiple Myeloma: A Diagnostic Challenge
Waldenstrom’s Macroglobulinaemia can mimic multiple myeloma, so accurate diagnosis is crucial.