The paper describes a skin morphological examination using an immunohistochemical study (Ki-67, cytokeratin (CK) 5/6, and CK LMW) in a dead 4-month-old girl with congenital ichthyosis (Harlequin ichthyosis (HI)). There is impaired proliferative activity, abnormalities in epidermal differentiation with abnormal CK LMW synthesis, and those in the differentiation of the skin appendages. There are also pronounced sclerotic changes with a predominance of reticulin fibers, derma, and its vessels. The patient with HI and trichoepithelioma is noted to have the similar immunohistochemical phenotype of hair bulbs.

The paper describes a clinical and anatomical case of partial trisomy of the long arm of 17 chromosome in a baby aged 1 month and 4 days with the karyotype 46,XY, dup(17)(q21q24) from a dichorionic diamniotic twin born after in vitro fertilization. Intrahepatic bile duct hyperplasia was first detected in the patient with this chromosomal abnormality. Histological and immunohistochemical examinations of the liver were conducted using antibodies to Ki-67, CK-pan, CK8, CK 18, Vim, SMA, CD31, CD34, HER-2/neu.