research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
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690-720 / 1000+ results research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
research Acquired Hypertrichosis Lanuginosa: A Rare Cutaneous Paraneoplastic Syndrome
research Congenital Lipedematous Alopecia in a 6-Year-Old Asian Boy
A 6-year-old Asian boy has a rare scalp condition causing hair loss and thickening, with unclear causes and no effective treatment.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research Grahams Little Piccardi Lausseur Syndrome - A Rare Case Report with Review of Literature
Early diagnosis of GLPLS is crucial to prevent complications, but scarring alopecia is irreversible.
research Erythromelanosis follicularis faciei et colli with reticulated hyperpigmentation of the extremities
A rare skin condition causes red and dark patches on the face and limbs.
research Woolly Hair in Two Siblings
Two siblings have a rare genetic condition causing curly, coarse hair.
research BG02 A case of Werner syndrome: undiagnosed progeroid syndrome presenting as female pattern hair loss
A person with Werner syndrome was initially thought to just have female pattern hair loss.
research CUTANEOUS MANIFESTATIONS OF LUPUS ERYTHEMATOSUS FROM A TERTIARY CARE CENTRE IN COASTAL KERALA
Most lupus patients in coastal Kerala had skin-specific lesions that could help diagnose the disease, and non-specific skin issues were linked to more severe, systemic lupus.
research A rare pediatric case of loose anagen hair syndrome
Loose anagen hair syndrome in children may improve with age, but treatment results vary.
research Satoyoshi Syndrome: Difficult to find or treat?
Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
research Telogen hair loss and androgenetic‐like alopecia in GAPO syndrome
A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Atrichia with papular lesions in Syrian siblings exposing global diagnostic challenges in genetic alopecia: A rare case report
Atrichia with papular lesions causes irreversible hair loss from infancy and is often misdiagnosed.
research A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Clinical Case Notes. Lipoid proteinosis: a rare disorder with pathognomonic lid lesions
A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
research Analogs of human genetic skin disease in domesticated animals
Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Keratosis follicularis spinulosa decalvans in a female
A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
research Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family
Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research Sweet Syndrome as the Presenting Symptom of Relapsed Hairy Cell Leukemia
Sweet syndrome can be the only sign of hairy cell leukemia relapse.
research Parry-Romberg Syndrome: A Rare Case with Diagnostic Challenges and Orthodontic Implications
Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
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 A Case Report of a Rare Subacute Cutaneous Lupus Erythematosus with Chin Prostration
A rare lupus case on the chin was successfully treated with steroids and immunomodulators after accurate diagnosis using advanced imaging techniques.
research The medusa head: Dermoscopic diagnosis of woolly hair syndrome
A man with Woolly Hair Syndrome had very curly, fragile hair, and doctors used a special scalp examination to diagnose him without invasive tests.