Rothmund-Thomson syndrome in a Filipino child: Report of a rare case

Rothmund-Thomson syndrome (RTS) is a rare, autosomal recessive disorder characterized by early onset of progressive poikiloderma, cutaneous and extracutaneous findings including sparse hair, juvenile cataracts, short stature, skeletal defects, hypogonadism, dystrophic teeth and nails.This is a case of a 4-year-old boy who developed at 2 months of age, reticulated erythematous macules and patches over predominantly sun-exposed areas such as the malar areas, ears, neck, extensor surfaces of the forearms and legs. This later on progressed into poikilodermatous lesions associated with sparse scalp hair, eyebrows, eyelashes and short stature. This is a report on the first documented Filipino patient diagnosed with RTS.

Asymptomatic neurocutaneous melanosis in a Filipino baby girl

Neurocutaneous melanosis (NCM) is a rare congenital syndrome characterized by the development of congenital melanocytic nevi and benign or malignant melanocytic tumors of the central nervous system. Neurologic symptoms usually manifest during the first two years of life with a high mortality rate.This is a case of a 3-year-old girl presenting with generalized large and multiple hyperpigmented macules and patches, some with hair, over the scalp, face, trunk, and extremities, present since birth. Histologic findings of a nodule within a nevus include nested melanocytes at the epidermis, cords and strands of melanocytes extending to the deep reticular dermis showing maturation with descent and lack of mitosis consistent with melanocytic nevi. The cranial magnetic resonance imaging contrast study revealed melanocytic deposits on the cerebellum and amygdala. She has regular follow-up with her dermatologist, pediatrician, and neurologist. The patient has remained asymptomatic of neurological symptoms despite the melanocytic deposits in the central nervous system.