Verrucous epidermal nevus (VEN) is a skin disorder that commonly presents at birth; it is characterized by skin-colored to brown verrucous papules in a linear distribution following Blaschko's lines. Even though it is extremely rare, VEN has been associated with malignant transformation. VEN has been treated by different treatment modalities with varying and frustrating results. We introduce a new type of treatment. The fractional micro-plasma radio-frequency (RF) technology, which uses unipolar RF technology to provoke plasma spars, creating multiple controlled micro-perforations on the skin. Photodynamic therapy (PDT) is a type of technology for disease diagnosis and treatment, in which a photosensitizer gathers within the nidus and kills the diseased cells. In this report, we present a case of VEN that was successfully treated with fractional micro-plasma RF technology and PDT without side effects or complications; a follow-up was conducted after 24 months and no signs of recurrence were observed.
ObjectivesObjectives Pseudohypoparathyroidism type 1A (PHP1A) is caused by maternal inheritance of GNAS mutations. It is characterized by the resistance to several hormones, primarily the parathyroid hormone (PTH), and the features of Albright’s hereditary osteodystrophy.Case presentationHere, we present a family comprised two affected brothers with PHP1A and identify a novel mutation (c.277C>T) in the GNAS gene. The siblings developed a slightly different presentation in the same clinical condition. Although both patients presented with PTH resistance, which is the hallmark of PHP, the proband showed the thyroid-stimulating hormone resistance with the progression of heterotopic ossification from skin and subcutaneous tissue into deep connective tissue, while the younger brother with normocalcemia did not show the resistance to other hormones. The patients may inherit the mutation from their mother who presumably carries the mutation as a mosaicism.ConclusionsOur case highlights the significance of considering mosaicism as an explanation for apparent de novo cases of pseudohypoparathyroidism.
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