research A case report and brief literature review of Klippel-Trénaunay syndrome
The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.
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690-720 / 1000+ results research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research Pseudopelade of Brocq in beard area
Pseudopelade can affect both the scalp and beard, causing hair loss.
research An Unusual Cause of Primary Amenorrhea
The 18-year-old girl likely has a condition called müllerian agenesis, which caused her to not have a uterus and experience no menstrual periods.
research `Cyclic alopecia' inMsx2mutants: defects in hair cycling and hair shaft differentiation
Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
research Uncombable hair syndrome and beyond
Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research Clinical and Trichoscopy Features in Trichorhinophalangeal Syndrome: A Multicenter Retrospective Study
Hair changes and a high occipital hairline may help diagnose Trichorhinophalangeal Syndrome.
research Efficacy of baricitinib in treatment of coexisting alopecia areata and lichen planopilaris
Baricitinib effectively treated hair loss and inflammation in a patient with alopecia areata and lichen planopilaris.
research Brandt Syndrome
Brandt syndrome, with symptoms like skin rash, hair loss, and diarrhea, improves quickly with zinc supplements.
research Short anagen hair syndrome
Short Anagen Syndrome causes persistently short hair and increased shedding, usually improving after puberty.
research 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
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 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 A case of ophiasis type of alopecia areata in a patient with ring chromosome 18 syndrome
A patient with a rare chromosome condition also had a rare type of hair loss.
research WHEN SILENCE TAKES OVER: A CASE OF CATATONIC SYNDROME REVEALING SYSTEMIC LUPUS ERYTHEMATOSUS
Catatonia can be a rare sign of lupus, needing careful diagnosis and treatment.
research Psoriasis associated with vulval scarring
Psoriasis can cause rare vulval scarring.
research Hair cross-sectioning in uncombable hair syndrome: An easy tool for complex diagnosis
The document suggests finding a simpler, cheaper way to diagnose Uncombable Hair Syndrome.
research Keratosis Follicularis Spinulosa Decalvans: Diagnosis and Therapeutic Evaluation.
KFSD causes scarring hair loss and skin roughness, mainly in males.
research Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Different gene mutations cause different types of ichthyosis, with some new mutations found.
research A rare hair loss in children: Monilethrix
Monilethrix is a rare, inherited condition causing fragile hair and hair loss, with no cure but some treatments may help.
research Reversal of Alopecia Areata Following Treatment With the JAK1/2 Inhibitor Baricitinib
A patient with Alopecia Areata had complete hair regrowth after using the drug baricitinib.
research ODP292 A Xanthomatous Hypophysitis: Always Think Twice Before Pituitary Resection.
Always consider xanthomatous hypophysitis before deciding on pituitary surgery.
research FRI220 Primary Bilateral Macronodular Adrenal Hyperplasia: A Rare Cause Of Cushing Syndrome
A rare case of Cushing syndrome was successfully treated with one-sided adrenal gland removal, suggesting personalized treatment is important.
research Case of non-Herlitz junctional epidermolysis bullosa withCOL17A1mutation
Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
research Multi-dermatomal unilateral nevus comedonicus along the lines of Blaschko: a rare presentation
A rare skin disorder, nevus comedonicus, can appear on one side of the body following Blaschko's lines.
research Psychosis as a late manifestation of Sheehan’s syndrome
Sheehan's syndrome can sometimes cause psychosis.
research Trachyonychia with juvenile pityriasis rubra pilaris
A young boy with a rare skin and nail condition improved significantly with simple topical treatments.
research Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
research Atrichia congenita with papular lesions: A rare cause of pediatric alopecia
This rare genetic disorder causes permanent hair loss and skin bumps from birth.