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Biomedical subjects

Cihangir Aliagaoglu

Publications and source records attributed to Cihangir Aliagaoglu.

9 recordsLinked to original sources

Waardenburg syndrome type 1.

Waardenburg syndrome (WS) is a rare disease characterized by sensorineural deafness in association with pigmentary anomalies and defects of neural-crest-derived tissues. Depending on additional symptoms, WS is classified into four types, WS1, WS2, WS3 and WS4. WS1 and WS3 are attributed to mutations in PAX3, whereas WS2 is heterogeneous, being caused by mutations in the microphthalmia-associated transcription factor gene in some but not all affected families. WS4 is attributed to mutations in the endothelin-3 or the endothelin-B receptor genes and SOX10 gene. WS1 is an auditory-pigmentary disorder comprising sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin, along with dystopia canthorum. We report a case with a confirmed diagnosis of WS1 and review the relevant literature for this rare disorder.

Child, Preschool↗

The importance of local subcutaneous fat thickness in pilonidal disease.

PURPOSE: This study was designed to investigate the local subcutaneous fat thickness in sacrococcygeal pilonidal disease. METHODS: Subcutaneous fat thickness was measured by ultrasonography in 125 patients with sacrococcygeal pilonidal disease and 125 age-matched, body mass index-matched and gender-matched controls. RESULTS: The sacrococcygeal subcutaneous fat thickness was 14.4 +/- 2.9 mm, 18.3 +/- 3.1 mm, and 22 +/- 2.2 mm, respectively, in normal, overweight, and obese patients with sacrococcygeal pilonidal disease and 9.1 +/- 3.1 mm, 11.3 +/- 2.6 mm, and 20 +/- 1.8 mm, respectively, in normal, overweight, and obese controls. Sacrococcygeal fat was significantly thicker in normal and overweight patients with pilonidal disease compared with controls with same body mass index (P< 0.01). There were no significant differences in fat thickness between obese patients and obese controls (P > 0.05). CONCLUSIONS: Sacrococcygeal fat thickness, as a local factor, is closely associated with pilonidal disease.

Adult↗

Association between alopecia areata and HLA Class I and II in Turkey.

HLA class I and II alleles have been described in patients with alopecia areata (AA). As in other immune mediated diseases, the HLA alleles associated with AA may influence the patient's ability to respond to immune challenges from both self and non-self antigens and can offer clues to the cause, prognosis, and potential therapy for the disease. The aim of this study was to determine which HLA class I and II alleles are associated with Turkish alopecia areata patients. Sixty-three patients with AA, alopecia totalis, or alopecia universalis were included in this study and compared with seventy-six healthy transplant donors. HLA DNA typing was performed by the PCR/SSP method. The frequency of HLA-B62 was significantly higher in patients than in controls. HLA-A2, HLA-A24, HLA-B35, HLA-DRB1*11, and HLA-DRB1*15 were significantly less common in patients than in the control group.

Alleles↗

Severe complete pachydermoperiostosis (Touraine-Solente-Golé syndrome).

BACKGROUND: The thickened, folded skin of Touraine-Solente-Golé syndrome (pachydermoperiostosis) can result in cosmetic and fuctional deformities. OBJECTIVE: To illustrate that simple surgical procedures can improve cosmetic and functional status. METHODS: Case report of a 33-year-old male with bilateral eyelid ptosis, enlargement of the eyelids, and a leonine facies owing to deep skin furrows managed with bilateral blepharoplasties and tarsal wedge resections, along with excision of multiple skin furrows. RESULTS: A greatly improved cosmetic appearance was achieved with these standard procedures. CONCLUSIONS: The appearance of patients with pachydermoperiostosis can be greatly improved with standard surgical procedures.

Adult↗

Unilateral syringoma of the face associated with hyperthyroidism.

Syringomas are benign tumors derived from the intraepidermal portion of eccrine sweat ducts. They usually occur on the periobital area, but have also been found on the scalp, forehead, cheeks, axillae, abdomen, extremities, genitalia, and buttocks. We describe a patient with an unusual presentation of unilateral syringoma of the face associated with hyperthyroidism.

Adult↗

Absence of a sphenoid wing in neurofibromatosis type 1 disease: imaging with multidetector computed tomography.

Neurofibromatosis type 1 disease is characterized by pigmented cutaneous lesions and generalized tumors of a neural crest origin and it may affect all the systems of the human body. Sphenoid dysplasia is one of the characteristics of this syndrome and it occurs in 5-10% of the cases; further, abnormalities of the sphenoid wings are often considered pathognomonic. However, complete agenesis of a sphenoid wing is very rare. We report here on an unusual case of neurofibromatosis type 1 disease with the associated absence of a sphenoid wing that was diagnosed by using multidetector computed tomography.

Adult↗