Porokeratosis (linear, Mibelli, plantar, ptychotropica) in Infant/Neonate
Linear porokeratosis is an uncommon variant that presents in infancy or early childhood as unilateral lesions contained within the lines of Blaschko. A less-common generalized form affects multiple extremities as well as the trunk. Recently, mutations in the mevalonate kinase pathway have been identified in linear porokeratosis and are thought to be the pathogenetic basis of this disorder. The linear variant of porokeratosis has the highest potential of malignant transformation of all porokeratoses, with cutaneous squamous cell carcinoma (SCC) being the most frequently associated malignancy.
Porokeratosis of Mibelli
The classic porokeratosis of Mibelli presents in infancy to early adulthood as an asymptomatic to slightly pruritic, brown to skin-colored, annular plaque with a peripheral hyperkeratotic, ridge-like scale. Lesions can range in size from 1 to 2 mm up to several centimeters in diameter. Larger lesions tend to form on the lower leg and foot, although giant facial and genital lesions have been described. The condition may be inherited as an autosomal dominant trait. Antecedent trauma or immunosuppression may be present. Lesions often persist indefinitely.
Porokeratosis Palmaris et Plantaris Disseminata (Plantar Porokeratosis)
Porokeratosis palmaris et plantaris disseminata is an autosomal dominant inherited genodermatosis presenting in adolescence or young adulthood. Initial lesions first appear on the palms and soles as small, uniform hyperkeratotic lesions with characteristic leading ridge with a longitudinal furrow. Subsequent lesions spread to involve other areas of the body, including non-sun-exposed sites as well as the mucous membranes. Males are affected twice as often as females.
Porokeratosis ptychotropica is a rare variant that has been reported in adults. Most reported cases have been in males. Giant plaques with a verrucous surface may be seen on the buttocks. It has been reported to coexist with porokeratosis of Mibelli.
Q82.8 – Other specified congenital malformations of skin
400080004 – Porokeratosis
- Tinea corporis – Potassium hydroxide (KOH) prep will demonstrate branching or curving fungal hyphae crossing cell borders.
- Granuloma annulare
- Viral warts (especially flat warts)
- Actinic keratosis – Scale present throughout the lesion.
- Lichen planus
- Linear lichen planus
- Incontinentia pigmenti (present from birth)
- Linear epidermal nevus
- Inflammatory linear verrucous epidermal nevus (ILVEN)
- Papular epidermal nevus with “skyline” basal cell layer (PENS) is a rare, newly described entity where affected children develop few hyperkeratotic polygonal or rectangular papules in one or more body locations. PENS syndrome describes a subset of patients with PENS with associated neurological findings such as epilepsy or neurodevelopmental delay.