research Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
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330-360 / 1000+ results research ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research A Complex Clinical Situation in Polycystic Ovary Syndrome: HAIR‐AN Syndrome ‘‘Case Report’’
Early detection, consistent management, and lifestyle changes are crucial for managing HAIR-AN syndrome effectively.
research For early diagnosis of young patients with Werner syndrome: Indication for genetic testing
Genetic testing is recommended for young patients showing signs like cataracts and hair changes to diagnose Werner syndrome early.
research Woolly hair with alopecia areata in a Caucasian girl
A young Caucasian girl had both woolly hair and alopecia areata, which is rare.
research GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT
A potential genetic link between Werner syndrome and kidney disease was suggested.
research The spectrum of hair loss in patients with mycosis fungoides and Sézary syndrome
Some patients with mycosis fungoides or Sézary syndrome experience hair loss, which may be similar to alopecia areata or linked to skin lesions, possibly due to abnormal T cells, and bexarotene can help treat it.
research A girl struggling with extremely unruly hair
The girl likely has Loose anagen hair syndrome, which may improve on its own or with minoxidil.
research Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss
Some cases of short anagen hair syndrome are linked to specific genetic variations that are also connected to male pattern baldness.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research Strange cutaneous abnormalities and polyposis in an Asiatic man
A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.
research Loose Anagen Hair Syndrome
A 6-year-old girl's inability to grow her hair long was due to Loose Anagen Hair Syndrome, which causes hair to shed easily and may improve with age.
research 062 A case of autoimmune facial swelling, weakness and sensorineuropathy with lower limb myositis
The woman's facial symptoms are best explained by primary Sjögren’s Syndrome.
research Systemic Lupus Erythematosus
PUVA treatment may have triggered lupus in a woman with psoriasis.
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 Intoxication massive au lithium associée à une alopécie télogène diffuse
A woman survived a massive lithium overdose that caused a form of hair loss.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
research Lupus Erythematosus Profundus with Multiple Overlying Cutaneous Ulcerations: A Rare Case
A patient with a rare form of lupus improved after treatment for skin ulcers and hair loss on the face and scalp.
research D ERMATOLOGICAL MANIFESTATIONS - ARE THEY SPECIFIC MARKERS FOR SYSTEMIC INVOLVEMENT IN SLE ?
Certain skin symptoms can help detect and manage systemic lupus.
research Clinical approach to discoloration in body hair in a Rottweiler dog
The dog's hair discoloration was due to low zinc and hypothyroidism, not the medication.
research Sudden whitening of the hair in an 82-year-old woman: the ‘overnight greying’ phenomenon
An 82-year-old woman's hair turned white suddenly, likely due to a rare form of alopecia that targets pigmented hair.
research Lanceolate Hair (lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair
Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
research Loose Anagen Syndrome
Loose anagen syndrome causes easy hair shedding in children, often resolving on its own.
research LP-161 Tjalma syndrome (Pseudo-Pseudo Meigs Syndrome): polyserositis with increased CA-125 in patients with systemic lupus erythematosus
Tjalma Syndrome is a rare condition in people with lupus, causing fluid buildup and high CA-125 levels, but not due to tumors.
research Alopecia Universalis Associated with Cutaneous T Cell Lymphoma
Some patients with a type of skin lymphoma can experience a rare, non-scarring hair loss that looks like another hair loss condition but has distinct features.
research A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease
A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
research Cutaneous lupus concerns from the patient perspective: a qualitative study
Patients with cutaneous lupus are most concerned about self-consciousness, physical symptoms, and disease progression.
research PS6:125 Systemic lupus erythematosus diagnosis is earlier in males compared to females
Systemic lupus erythematosus is diagnosed earlier in males than females.
research A case of localized uncombable hair syndrome
A 4-year-old girl had a rare hair disorder affecting only part of her scalp.