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Pseudoxanthoma elasticum (PXE) is a hereditary disorder that mainly involves the skin, eyes, and cardiovascular system. We reported a case of pseudoxanthoma elasticum with involvement of neck, axillae, abdomen and thighs, together with angioid streaking of fundi. Skin biopsy specimen was taken and was stained with hematoxylin and eosin (H and E) that revealed fragmentation of the elastic fibers. These features were suggestive of histopathological diagnosis of PXE. We have reviewed other published reports to obtain a better understanding of the genetics, histopathology, vascular and ophthalmological manifestations of pseudoxanthoma elasticum.

Piebaldism is a rare disorder present at birth and inherited as an autosomal dominant trait. It results from a mutation in the c-kit proto-oncogene and is associated with a defect in the migration and differentiation of melanoblasts from the neural crest. We report a 15-year-old girl with both piebaldism and neurofibromatosis type 1 (NF1). She presented with a congenital depigmented patch of the forehead, as well as acquired white forelock, depigmentation of the medial eyebrows, and depigmented patches of the legs. In addition, some cafe au lait macules were observed at birth on the trunk and neck. To our knowledge, the association of piebaldism and NF1 has been described previously in at least 6 case reports. Awareness of this rare association is relevant to ensure early diagnosis and adequate follow-up for NF1.

Leiomyoma is a benign tumour commonly encountered in the genitourinary and gastrointestinal organs in adults. Cutaneous leiomyomas are rare benign tumors arising from the arrector pili muscle of hair follicles. Cutaneous leiomyomas are more likely to occur in adults than in children. We describe a case of a 30-year-old male who presented with skin-coloured masses on the back. A punch biopsy was performed. Under high-power examination, spindle cells with an eosinophilic cytoplasm were observed and immunohistochemical studies were performed; the cells stained strongly positive for smooth muscle actin (SMA). The patient was subsequently diagnosed with pilar leiomyoma and referred to a plastic surgeon for surgical treatment. A careful clinical assessment led to the correct diagnosis and therapy in the present case.