PubMed HealthSearch

Biomedical subjects

M M Nikolić

Publications and source records attributed to M M Nikolić.

3 recordsLinked to original sources

[Study of hair in type I tricho-rhino-phalangeal syndrome].

Trichorhinophalangeal syndrome has three characteristic signs: slow-growing hair, pearshaped nose with high philtrum and bradyphalangia with wedge-shaped epiphyses. We report two familial cases of type I trichorhinophalangeal syndrome. Our aim was to better identify the hair anomalies. A 22-year-old boy and his 65-year-old mother had thin sparse hair with recessed fronto-temporo-occipital hair lines. The trichogramme of the occipital region showed 52% dystrophic roots and 48% telogenic roots. Polarized light revealed monochromal hair with clear << finger-end >> rhexis. Electron scan microscopy showed thin, oval, flat or cannulated hairs and folded cuticle cells. A transverse zone in the prerhexis area had no cuticle cells and << finger-end >> fractures. Histological examination showed a normal follicle count. Sebaceous and sudoriparous glands were normal. Other characteristics of trichorhinophalangeal syndrome (facial deformity with pear-shaped nose with high philtrum, clinobrachydactylia of the fingers and toes, and radiologically wedge-shaped epiphyses) were also noted. Caryotypes were normal. We emphasize the importance of folded cuticle cells and clear rhexis leading to << finger-end >> fractures. These anomalies could serve as markers in cases with few suggestive signs.

Abnormalities, Multiple

Diffuse partial woolly hair.

We report 4 new cases presenting with the characteristics of a recently described pilar dysplasia entitled 'diffuse partial woolly hair'. Two of our cases were familial (mother and daughter), while the 2 other were sporadic. Scalp hair of all the patients exhibited two hair shaft populations intermingled throughout the scalp. The first hair type was straight, normally pigmented and of normal length, while the second type was wavy and the shafts were hypopigmented, thinner, shorter and easily pluckable. One of our patients presented with a diffuse hair thinning due to a progressive loss of wavy hairs. Under reflected light, both hair populations displayed alternating dark and bright segments. Scanning-electron microscopic analysis of straight and wavy hairs revealed comparable lesions: torsions, angular kinks, weathering as well as grooved segments alternating with the normal ones. These changes were the most severely expressed in the shortest and the waviest hairs. Taken together, the clinical and microscopic characteristics of this pilar dysplasia justify its introduction as a separate entity into the woolly hair group.

Adolescent