research Congenital atrichia associated with situs inversus and mesocardia
A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
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120-150 / 1000+ results research Rapunzel Syndrome: A Rare Cause of Biliary Obstruction
Trichobezoars can cause serious health issues like biliary obstruction, and treatment includes surgery and therapy to prevent recurrence.
research CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
research Biotinidase deficiency – clinching the diagnosis rapidly can make all the difference!
Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
research A Case of Cronkhite-Canada Syndrome Presenting with Hematochezia
Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
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 Unilateral Straight Hair—A Symptom of Acquired Horner's Syndrome in a Neonate
A baby girl's hair turned straight on one side due to a neck tumor and surgery, but it returned to curly as she recovered.
research Identification and characterization of Birt–Hogg–Dubé associated renal carcinoma
Somatic BHD mutations are rare in Japanese renal tumors.
research Uncombable hair in a case of Zellweger syndrome – A new association
Uncombable hair syndrome is linked to Zellweger syndrome.
research An unusual case of Anasarca-Rapunzel syndrome
A multidisciplinary approach is crucial for treating complex cases of Rapunzel syndrome in children.
research Familial Nonmembranous Aplasia Cutis of the Scalp
Some families have a genetic condition where they are born with irregular scalp defects.
research Atypical Congenital Triangular Alopecia (Brauer Nevus): Case Report and Review of Literature in Occipital and Mid-Frontal Localizations
The report concludes that atypical Brauer nevus is more common in males, present at birth, and often misdiagnosed due to its unusual scalp locations.
research Keratoma Hereditaria Mutilans (Vohwinkel's Disease) with Congenital Alopecia Universalis (Atrichia Congenita)
Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
research Generalized Hair-Follicle Hamartoma
Skin biopsy is crucial for diagnosing unknown baldness causes.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research SUN-287 A Case of Ectopic Neurohypophysis
The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research Ocular manifestations in a case of Kallmann syndrome – An interesting case report on isolated gonadotropin-releasing hormone deficiency
Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research Hypotrichosis congenita of Marie Unna
A 54-year-old woman experienced progressive hair loss starting in adolescence, leading to sparse scalp hair and almost no eyebrows or eyelashes.
research Modern trends in the variability of the mechanisms of formation and principles of diagnosis – Ganser syndrome
Ganser syndrome may result from both organic and psychogenic factors.
research A girl with loose anagen hair syndrome and concurrent uncombable hair syndrome
A girl had two rare hair conditions that helped understand their overlap.
research Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1
A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
research P-017 CUSHING'S SYNDROME DUE TO PRIMARY BILATERAL MACRONODULAR ADRENAL HYPERPLASIA AND METACRONOUS PHEOCHROMOCYTOMA
A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.
research Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Isolated patchy heterochromia with pili annulati features on light and electron microscopy
Isolated patchy heterochromia with pili annulati can occur without other health issues.
research Trichorrhexis Invaginata and Netherton’s Syndrome
Recognizing bamboo hair helps diagnose Netherton’s syndrome.