research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
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630-660 / 1000+ resultsresearch An Unusual Cause of Hair Loss
A 32-year-old woman's hair loss was linked to skin nodules and severe headaches.
research Localized pemphigus vulgaris on scalp: an atypical presentation.
Scalp pemphigus vulgaris can be effectively treated with low-dose prednisone and triamcinolone.
research Scarring alopecia and scalp pruritus
The text talks about a rare skin condition causing hair loss and suggests that people with this should also check their lung and heart health.
research Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.
The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Hiperplasia supra-renal congénita e mielolipoma adrenal - relação causal ou acidental?
Congenital adrenal hyperplasia may be linked to adrenal myelolipoma.
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 Adrenoleukodystrophy: A Rare Case Report
Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
research P448: Identification of a novel RPS6KA3 variant in a female child with features of Coffin-Lowry syndrome: A case study
A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis
An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.
research Linear lupus panniculitis of scalp: a case report from north-east India
A child with a rare scalp condition regrew hair after treatment.
research BH13 Is this dissecting cellulitis of the scalp in a White child?
The case suggests that dissecting cellulitis of the scalp can occur in a White child and should be considered when diagnosing pediatric scarring alopecia.
research Erosive pustular dermatosis of the scalp: a pathogenetic мystery and therapeutic challenge
A rare scalp condition called Erosive pustular dermatosis is hard to diagnose and treat.
research Supplementary Material for: TOFACITINIB IN OVERLAPPING AUTOIMMUNE AND AUTOINFLAMMATORY DISORDERS: A CASE REPORT OF A DUAL GRAHAM-LITTLE-PICCARDI-LASSEUR SYNDROME AND HIDRADENITIS SUPPURATIVA
Tofacitinib significantly improved symptoms in a patient with overlapping autoimmune disorders.
research P-12 ACTH-INDEPENDENT CUSHING SYNDROME WITH INCONCLUSIVE ADRENAL CT SCAN RESULTS
Ketoconazole improved symptoms of ACTH-independent Cushing syndrome despite inconclusive initial scans.
research Circumferential acute limited exanthematous pustulosis
A 16-year-old girl's skin rash was likely caused by an infection and improved with topical steroids.
research Seborrheic keratosis
Seborrheic keratosis is a common, harmless skin growth that can look like cancer, so it may need a biopsy.
research When Catastrophic Antiphospholipid Syndrome Meets Acquired Haemophilia A ; A Diagnostic and Management Challenge in Newly Diagnosed Systemic Lupus Erythematosus
Early recognition and a multidisciplinary approach are crucial for effectively managing complex autoimmune conditions like SLE with CAPS and AHA.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Decreased lipin 1β expression in visceral adipose tissue is associated with insulin resistance in polycystic ovary syndrome
Lower lipin 1β in belly fat is linked to insulin resistance in people with polycystic ovary syndrome.
research Papular atrichia
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
research Inverted Follicular Keratosis of the Lower Eyelid—A Diagnostic Conundrum
Inverted follicular keratosis on the eyelid can be cured with surgery and has a great prognosis.
research Lichen planopilaris [cicatricial (scarring) alopecia] in a child
A 12-year-old boy's hair loss and skin issues improved significantly with medication.
research Pseudopelade of Brocq
Pseudopelade of Brocq is a unique hair loss condition, but its cause and development are still not fully understood.
research Involvement of scalp and nails in lupus erythematosus
Lupus can affect the scalp and nails, often causing hair loss and nail damage, and needs early aggressive treatment to prevent permanent damage.
research Lupus Panniculitis of the Scalp Presenting as a Patchy Nonscarring Alopecia: Report of an Uncommon Case
Lupus panniculitis can cause patchy hair loss and was successfully treated with medication.
research A RARE FORM OF SUPPURATING AND CICATRIZING DISEASE OF THE SCALP
A rare scalp disease causes hair loss, pus-filled nodules, and scarring.
research Overview of common, rare and atypical manifestations of cutaneous lupus erythematosus and histopathological correlates
The document concludes that recognizing and treating cutaneous lupus erythematosus early is crucial for managing the skin and potential systemic symptoms.