ABSTRACT
BACKGROUND: Pigmentary mosaicism (PM), also known as Blaschkoid dyspigmentation, is a rare pigmentary anomaly. Although several case reports have been published describing extracutaneous manifestations associated with PM, there are very few studies on the clinical characteristics of patients with PM. AIM: To describe the clinical characteristics of patients with PM. PATIENTS AND METHODS: This descriptive cross-sectional study was conducted among 47 children examined by a dermatologist and a pediatrician. The pattern and location of the PM, type of pigmentation and extracutaneous manifestations were documented. RESULTS: The most common pattern of PM was narrow-band PM, followed by broad-band and checkerboard patterns. The trunk was the most affected region, followed by the legs and arms. PM manifested as hypopigmentation in 51.1% of cases, as hyperpigmentation in 27.6%, and as hypo/hyperpigmentation in 21.2%. Accompanying diseases were present in 40.4% of patients: neuropsychiatric diseases were the most common, followed by endocrinological or hematological diseases and growth/developmental delay. CONCLUSION: PM has been associated with several extracutaneous findings but there is still some debate whether these associations reflect different PM phenotypes or whether they are simply coincidental. Our study suggests that extracutaneous involvement in PM patients is frequent, thus warranting careful examination of PM patients.
Subject(s)
Hyperpigmentation , Hypopigmentation , Humans , Mosaicism , Cross-Sectional Studies , Hyperpigmentation/genetics , Hypopigmentation/genetics , PhenotypeABSTRACT
PURPOSE OF INVESTIGATION: The present study aims to investigate the incidence, clinicopathological features, and experience of treat- ment outcomes of patients with endometrial adenocarcinoma (EC) at ≤ 40 years of age in a gynecologic oncology reference center in Ankara, Turkey. MATERIALS AND METHODS: This retrospective study included 577 patients with EC, diagnosed and treated between 2007 and 2013. RESULTS: The incidence of EC ≤ 40 years of age was 5.1% (n: 30). The mean age at diagnosis was 35.5 (range: 27-40). Most of the patients with EC were overweight or obese. However, 23% had normal body mass index (BMI). Infertility was seen as a risk factor in 38.4%. The mean duration of postoperative follow-up was 38.3 months with rates of disease persistence and recurrence 14.2% and 28.5%, respectively. CONCLUSION: The disease is diagnosed usually in its early stage and has a good prognosis. Appropriately selected patients with fertility desire have the opportunity to conceive with conservative management.
Subject(s)
Adenocarcinoma/pathology , Endometrial Neoplasms/pathology , Adenocarcinoma/therapy , Adult , Body Mass Index , Endometrial Neoplasms/epidemiology , Endometrial Neoplasms/therapy , Female , Fertility , Humans , Neoplasm Staging , Retrospective StudiesABSTRACT
We report a patient with acromesomelic dysplasia, cardiac and neurologic abnormalities. This may be a new syndrome or cardiac and neurologic features may be undescribed rare features of acromesomelic dysplasia.
