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.
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150-180 / 1000+ results research Nevoid basal cell carcinoma syndrome. Some histologic observations on the cutaneous lesions
Nevoid basal cell carcinomas start in the skin's top layer and hair follicles.
research PMON325 Rare Presentation of Precocious Puberty Secondary to LH-Secreting Adenoma
An 8-year-old boy's early puberty was caused by a rare hormone-secreting brain tumor, which was successfully treated with surgery.
research Sebaceous carcinoma arising at a chronic candidiasis skin lesion of a patient with keratitis-ichthyosis-deafness (KID) syndrome
A man with KID syndrome developed a rare cancer in a long-term skin infection.
research Bullous pilomatrixoma: Without a “Shadow” of doubt – Role of ROSE and cytology
Fine needle aspiration with rapid on-site evaluation is useful for diagnosing pilomatrixoma.
research Horn With Miliary Calcification in Squamous Cell Carcinoma
A unique case of skin cancer showed unusual calcification, possibly linked to calcium-binding proteins.
research Eruptive vellus hair cysts of the labia majora: detection of openings of the cysts to the epidermis by dermoscopy
Dermoscopy can non-invasively detect eruptive vellus hair cysts on the labia majora.
research Acquired smooth muscle hamartoma with sebaceous component
The patient has a rare skin condition that shows features of two known disorders.
research Pediatric Radiation-Induced Alopecia Post Intracranial Vascular Malformation Embolization: A Case Report with Dermoscopic Findings
A 7-year-old girl experienced temporary hair loss due to radiation, with signs of possible hair regrowth.
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 42863 The association of milia-like calcinosis cutis, alopecia totalis and hyperthyroidism linked with the novel mutation for RBM28
Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
research Postzygotic KRAS G12C mutation, associated with various malignancies, is also underling epidermal nevus syndrome
A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
research Acquired constriction ring syndrome as a cause of inconsolable cry in a child: a case report
A hair tightly wrapped around a toddler's toe caused severe crying and was treated by surgery.
research Challenges in diagnosis and treatment of Cushing disease in a 12-year-old boy
The boy's Cushing's Disease was treated successfully, but he developed growth hormone deficiency.
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research Imaging sonographic findings of in a case of proliferating trichilemmal tumor of a finger: A case report
A rare finger tumor was imaged, showing a unique pattern not seen before.
research Extensive cerebral arteriovenous malformation presenting as a small cutaneous lesion on the forehead
A small forehead lesion led to the discovery of a significant brain arteriovenous malformation in a young girl.
research Eccrine angiomatous hamartoma
The girl's skin condition is benign but challenging to treat due to its size and location.
research Familial Nonmembranous Aplasia Cutis of the Scalp
Some families have a genetic condition where they are born with irregular scalp defects.
research Steatocystoma Multiplex
Steatocystoma multiplex causes recurring skin cysts and needs early recognition for better management.
research The Case Files
A 65-year-old man with sudden abdominal pain and seizures was diagnosed with a rare, non-traumatic splenic rupture and treated without surgery.
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 Rothmund‐Thomson syndrome type 2 – a rare cause of chronic wounds
Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
research Eruptive syringomas in Down’s syndrome
People with Down's syndrome are more likely to have syringomas.
research Dilated pore of Winer in a dog
A dog had a rare skin cyst, known as a dilated pore of Winer, surgically removed from its neck.
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 Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research Hypothalamic hamartoma with pubertas precox and gelastic seizure in a boy (Case Report)
A boy with early puberty and laughing seizures was treated, stopping seizures and slowing puberty.
research Atypical Pediatric Presentation of Pilomatricoma
Pilomatricomas should be considered to avoid misdiagnosis in children with unusual skin tumors.