research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
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research Ichthyosis Follicularis With Alopecia and Photophobia
Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
research Pseudopili Annulati in a Dark‐Haired Individual: A Light and Electron Microscopic Study
A dark-haired Chinese girl had hair that looked banded under certain light but was normal under a microscope.
research 16232 Analysis of androgen excess and association with polycystic ovary syndrome in female-pattern hair loss before 30 years of age
Ankle braces reduce motion, while external focus improves hip and knee movements.
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 Description of clinical aspects and microscopy of the hair shaft of a carrier of familial monilethrix
Monilethrix causes brittle hair and hair loss, and it runs in families.
research Neurochemical and Immunocytochemical Studies of Catecholamine System in the Brindled Mouse
Brindled mice show abnormal catecholamine neuron development due to copper deficiency.
research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research Ulerythema ophryogenes with multiple congenital anomalies
The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
research [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Acquired Localized Hypertrichosis Following Cast Application for Fracture
Increased hair growth after a cast is temporary and harmless.
research 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
research Molecular and Cellular Characterization of Avian Reticulate Scales Implies the Evo–Devo Novelty of Skin Appendages in Foot Sole
Bird foot scales develop differently and can repair but not fully regenerate due to the lack of specialized stem cell areas.
research Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
research Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation]
The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research ROBERTSONIAN TRANSLOCATION PATIENT WITH RECURRENT MISCARRIAGE
Robertsonian translocation can cause recurrent miscarriages.
research Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation
Msx2 deficiency in mice leads to bone growth and organ development problems.
research Can the Second to Fourth Digit Ratio (2D : 4D) Be a Marker to Determine Ankylosing Spondylitis Disease Activity?
The index to ring finger ratio may indicate disease severity in female ankylosing spondylitis patients, but not in males.
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 The disrupted balance between hair follicles and sebaceous glands inHoxc13‐ablated rabbits
Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
research Eruptive syringomas in Down’s syndrome
People with Down's syndrome are more likely to have syringomas.
research Trichorhinophalangeal Syndrome
Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
research Two Dogs with Juvenile-Onset Skin Diseases with Involvement of Extremities
The analyses helped identify different skin diseases in the two dogs.
research Eccrine angiomatous hamartoma
The girl's skin condition is benign but challenging to treat due to its size and location.