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Familial reactive perforating collagenosis was first described as a form of transepithelial elimination of altered collagen related to superficial trauma and presenting in childhood. The problem can persist into adulthood. Acquired reactive perforating collagenosis generally evolves during adulthood and is 1 of 4 classic perforating dermatoses that are now grouped under the umbrella term of "acquired perforating dermatosis"; this grouping also includes elastosis perforans serpiginosa, perforating folliculitis, and Kyrle disease. Acquired perforating dermatoses are often associated with diabetes mellitus or chronic renal disease; however, they may also occur in patients with other systemic diseases, in association with medications, and in patients without an underlying disease.
The pathogenesis is unknown, but the familial disease is generally thought be inherited in an autosomal recessive manner (although an autosomal dominant pattern has also been observed in some families). Males and females are equally affected, and lesions generally start within the first few years of life in the inherited form.
The primary lesion is generally a skin-colored papule 1-3 mm in diameter that reaches a maximum size of about 6 mm within a month; 6-8 weeks later, it regresses spontaneously (often leaving temporary areas of hypopigmentation behind or slight scarring). There is a central dark brown or black keratotic plug seen in more advanced lesions that is firmly adherent and, if removed, results in bleeding. Koebner phenomenon may occur, resulting in new lesions that are often linearly arranged. Pruritus is often severe. There are often periods of disease remission and exacerbation.
Lesions have a predisposition for the arms, legs, and face and are generally seen in relation to any form of skin trauma (even mild forms), including arthropod bites, cold exposure, folliculitis, scratching, and abrasions.
For more information on familial reactive perforating collagenosis, see OMIM.
Elastosis perforans serpiginosa – Lesions often occur in young adults rather than young children; they are also often annular or serpiginous and do not exhibit Koebner phenomenon. The lesions generally only affect one anatomic area.
Perforating folliculitis – Papules are generally asymptomatic, whereas lesions of reactive perforating collagenosis are very pruritic. The keratotic plug is generally white and often contains a curled-up hair in the center, in contrast to the dark brown or blacker keratotic plugs of reactive perforating collagenosis.
Kyrle disease – Lesions usually occur in adults (although rarely in children); they are usually bilateral and favor the lower extremities. The individual papules are generally reddish and often coalesce into plaques.
