Introduction. The IFAP syndrome is a rare X-linked genetic disorder characterized by the triad of follicular ichthyosis, atrichia, and photophobia. Case Report. A three-month-old Caucasian, male patient was observed with noncicatricial universal alopecia and persistent eczema from birth. He had dystrophic nails, spiky follicular hyperkeratosis, and photophobia which became apparent at the first...

BACKGROUND Pachyonychia congenita (PC) is a rare autosomal dominant disease whose main clinical features include hypertrophic onychodystrophy and palmoplantar keratoderma. The new classification is based on genetic variants with mutations in keratin KRT6A, KRT6B, KRT6C, KRT16, KRT17, and an unknown mutation. Here, we present a case of PC with unusual clinical and histological features and a fav...

The aim of this study was to determine the expression intensity of PCNA and Ki-67 tissue antigens related to pathologically modified oral mucosa in OLR lesions, and to determine the reaction intensity of these antigens in individual clinical forms, i.e. lichen ruber planus (LRP) and lichen ruber erosivus (LRE) comparing the reaction intensity with the inflammation grade and the degree of hyperk...

INTRODUCTION Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital multisystem disorder affecting certain tissues of ectodermal origin such as epidermis, cochlea, and cornea, leading mainly to palmoplantar hyperkeratosis, ichthyosiform scaling, deafness, and blindness. The author reports for the first time in the Middle East three family members suffering from KID syndrome in the so...

5-aminolevulinic acid-photodynamic therapy (ALA-PDT) is known to be effective in several skin diseases such as acne, actinic keratoses, condyloma acuminata. However, some detailed mechanisms of ALA-PDT to treat these skin diseases still remain elusive. In this study, we aimed to investigate mechanism of ALA-PDT in in-vitro and in-vivo models. For in vitro, we use human keratinocyte cell line (H...

OBJECTIVES Noonan and Noonan-related syndromes are common autosomal dominant disorders with neuro-cardio-facial-cutaneous and developmental involvement. The objective of this article is to describe the most relevant tegumentary findings in a cohort of 41 patients with Noonan or Noonan-related syndromes and to detail certain aspects of the molecular mechanisms underlying ectodermal involvement. ...

BACKGROUND It is generally accepted that the development of cancer in the oral mucosa is preceded by an identifiable non-invasive precursor lesion. The aim of this follow-up study was to estimate the rate and the time to transformation in a group of patients from southern Taiwan with potentially malignant oral epithelial lesions. METHODS The follow-up time is defined as the duration between t...