Category: Nov 2018 Supplemental Issue Genodermatoses

Incontinentia pigmenti: a case report

Incontinentia Pigmenti (Block-Sulzberger Syndrome) is a multi-system disorder whose name refers to the histopathologic finding of dermal melanophages in the third stage. An incidence of 0.6- 0.7/1,000,000 live births have been established with only 42 cumulative cases reported in the PDSHIS from 2011 to 2018.

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Age in a furrow: a case of a 27-year old male with pachydermoperiostosis

Pachydermoperiostosis or primary hypertrophic osteoarthropathy is a rare, genetic syndrome with familial and idiopathic forms characterized by progressive joint effusion associated with pachydermia, periostosal proliferation of the long bones, and finger clubbing. This condition presents with distinctive thickening and furrowing of the skin of the scalp, forehead and cheeks, enlargement of the distal parts of the extremities, excessive sweating, and severe seborrhea of the scalp and face.

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A Case of Darier’s Disease in a 32-year-old Filipino Female

Darier’s Disease is a rare autosomal dominant genetic disorder characterized by predominantly scaly or keratotic papules distributed on the seborrheic areas of the body, with nail splitting, palmar pits and a malodorous scent. It is a chronic disease with a prevalence of 1-4 out of 100,000 people. Abnormality in the gene ATP2A2 that codes for the Sarcoendoplasmic Reticulum Calcium ATP-ase pump is implicated in the disease.

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A case of a 16-year old male with Tuberous Sclerosis Complex

Tuberous sclerosis complex is a rare, multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. In familial cases, TSC is autosomal dominant. However, most cases actually occur as sporadic cases due to new, mutations in a tumor suppressor gene, either TSC1 or TSC2. Characteristic skin lesions include angiofibroma, facial fibrous plaques, shagreen patch, hypomelanotic macules and ungal fibromas. Many TSC patients show evidence of the disorder in the first year of life. However, clinical features can be subtle initially, and many signs and symptoms take years to develop.

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A Case of Multiple Neurofibromas with Hypertrichosis in a Patient with Neurofibromatosis I

We report a case of multiple neurofibromas with hypertrichosis in an 11-year-old male. Classic cutaneous neurofibromas, café-au-lait macules, axillary freckling, Lisch nodules and scoliosis were also present fulfilling a diagnosis of Neurofibromatosis type 1. Hypertrichosis overlying a neurofibroma is rarely reported and the mechanism remains to be elucidated.

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