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research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Acromegaloid Facial Appearance: Case Report and Literature Review
The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.
research Trichothiodystrophy Associated with Urologic Malformation and Primary Hypercalduria
Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Editorial highlights
Recent advances show zebrafish can model anemia, Alx4 affects craniofacial and hair development, and mTORC1 is crucial for retinal development.
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 The use of dermoscopy in a case of nevus sebaceous misdiagnosed and treated as cicatricial alopecia
Dermoscopy helped correctly diagnose a skin condition that was previously misidentified as a different hair loss disease.
research Virilizing Adrenocortical Oncocytoma in a Child: A Case Report
A rare adrenal tumor in a 14-year-old girl caused male-like symptoms and was successfully removed.
research Prevalence and Metabolic Characterization of Polycystic Ovary Syndrome in a Cohort of Patients Diagnosed with Spina Bifida: Study Protocol
PCOS may be linked to spina bifida in young females.
research Impending central retinal vein occlusion and granulomatous uveitis in a patient with Satoyoshi syndrome
Satoyoshi syndrome can cause eye problems like uveitis and retinal vein issues.
research Temporal triangular alopecia and a review of 52 past cases
Most cases of Temporal Triangular Alopecia are found in early childhood and may be related to genetic conditions.
research MULTIPLE HEMANGIOMAS OF THE TONGUE AND ORAL CAVITY IN A MYOTONIC DYSTROPHY TYPE 1 PATIENT: A CASE REPORT
A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.
research Netherton Syndrome
Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
research Acquired smooth muscle hamartoma with sebaceous component
The patient has a rare skin condition that shows features of two known disorders.
research The Use of Human Amnion/Chorion Membrane and Umbilical Cord Grafts for Treatment of a Scalp Wound With Exposed Bone
Human amnion/chorion membrane and umbilical cord grafts may help heal scalp wounds with exposed bone.
research LBODP010 A Case of Glucocorticoid Resistance Syndrome
The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
research Nevus comedonicus
Nevus comedonicus is a rare skin condition with grouped open pores, sometimes linked to other body issues.
research Dermoscopy in the diagnosis of tinea capitis infections in children
Dermoscopy can help diagnose tinea capitis in children by looking for comma hairs, black dots, and broken hairs with white bands.
research Advances and challenges in intravital imaging of craniofacial and dental progenitor cells
Intravital imaging advances help study bone and dental stem cells in real-time, despite technical challenges.
research Infected intraosseous epidermoid cyst in the right ankle: a case report
A rare ankle cyst was successfully removed and the patient recovered well.
research Tinea Capitis in Adults; An 18-year Epidemiological, Clinical and Mycological study in Korea
Tinea capitis in adults often leads to misdiagnosis or delayed diagnosis due to atypical symptoms, requiring careful examination for proper treatment.
research Netherton's Syndrome.
A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
research ADRENAL ONCOCYTOMA IN CHILDREN – case report
A rare adrenal tumor in a 9-year-old girl was successfully treated with surgery.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research Familial aggregation of phenotypic expression of premature hair hypopigmentation in the craniofacial region
Premature hair graying in the face may be influenced by genetics and environment.
research Scalp Melanoma: A High-Risk Subset of Cutaneous Head and Neck Melanomas with Distinctive Clinicopathological Features
Scalp melanomas are more dangerous and likely to recur or cause death than other head and neck melanomas.
research Sarcoidosis Presenting as Frontal Fibrosing Alopecia: A Master Mimicker or a Coincidental Finding?
Sarcoidosis can mimic other skin disorders, making diagnosis challenging.
research Two Cases of Linear Alopecia on the Occipital Scalp
Two rare bald spots on the back of the scalp were found to be lupus, not alopecia areata.
research COEXISTENCE OF TRICHOSTASIS SPINULOSA AND ERUPTIVE VELLUS HAIR CYSTS
Recognizing both trichostasis spinulosa and eruptive vellus hair cysts together is crucial for accurate diagnosis and treatment.