IllnessPorokeratosis, familial; differential diagnosis

NGS +

Group of disorders

ORPHA:735 Porokeratosis of Mibelli. Prevalence: Unknown (more males). Brown single/multiple annular plaques, varying size, sometimes confluent, distinctive sharply-defined keratotic border

ORPHA:736 Palmoplantar porokeratosis of Mantoux/Punctate palmoplantar keratoderma type 2. Prevalence: <1/1 000 000. Isolated, punctate, hereditary palmoplantar keratoderma with multiple, asymptomatic, 1-2 mm-long, firm, hyperkeratotic projections (spiny keratosis) on palms, soles, digits (typically confined to volar and/or lateral). Histopathologically, compact columnar parakeratosis over hypo-/agranular epidermis

ORPHA:737 Porokeratosis plantaris palmaris et disseminata, Prevalence: Unknown (rarest form). In adolescence with small pruritic or painful keratotic papules first appear on palms/soles, may gradually become generalized

ORPHA:79152 Disseminated superficial actinic porokeratosis. Prevalence: Unknown. Most common form with several small annular plaques + distinctive keratotic rim, most commonly on sun-exposed skin areas, extremities

• Alias: Keratoma excentricum
• Alias: Mantoux’ syndrome
• Alias: Parakeratosis Mibelli
• Alias: Parakeratosis anularis
• Alias: Parakeratosis centrifugata excentrica
• Alias: Porokeratose, aktinische disseminierte superfizielle
• Allelic: Hyper-IgD syndrome (MVK)
• Allelic: Mevalonic aciduria (MVK)
• Disseminated superficial actinic porokeratosis [panelapp] (SART3)
• Porokeratosis 1, multiple types (PMVK)
• Porokeratosis 3, multiple types (MVK)
• Porokeratosis 7, multiple types (MVD)
• Porokeratosis 8, disseminated superficial actinic type (SLC17A9)
• Porokeratosis 9, multiple types (FDPS)