Erythrokeratodermia progressiva symmetrica Darier-Gottron mit generalisierter Ausprägung

Abstract

A mother and her son presented with erythrokeratodermia progressiva symmetrica Darier-Gottron. Both patients developed symmetrical erythematous and hyperkeratotic plaques on the extremities and face at the age of 6 months. At the age of 2 1/2 years the son suffered from rapid progression of the disease to involve the entire skin. The disease of his mother had shown a similar course, however, with spontaneous regression at the age of 10 years. The clinical features of this generalized condition were identical to congenital lamellar ichthyosis. Light microscopy was non-specific with orthohyperkeratosis, focal parakeratosis and acanthosis. Electron microscopy revealed numerous keratinosomes in the stratum granulosum, keratinosome-derived lamellae in the intercellular space and partly augmented keratohyalin with clumping. In the stratum spinosum short tonofilament bundles with clumping were remarkable. The child experienced a significant and persistent improvement with systemic retinoids. His mother's disease was successfully controlled with intermittent retinoid therapy. With the clinical and ultrastructural criteria presently available, an unambiguous differentiation between erythrokeratodermia progressiva symmetrica, usually a localized disorder of keratinization, however with intermittent generalization, and other disorders of keratinization seems difficult.

The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron

“…Our propositus was initially diagnosed as having PSEK, based on the presence of non‐migratory progressive erythematous and hyperkeratotic skin patches [Emmert et al, 1998]. We have recently argued that there is no clinical basis to distinguish PSEK as a separate nosological entity [Van Steensel, 2004a].…”

A new type of erythrokeratoderma

“…[7][8][9] Several authors accept the existence of a nonmigratory but progressive erythrokeratoderma, called progressive symmetric erythrokeratoderma (PSEK) or Gottron erythrokeratoderma. [10][11][12][13][14][15][16][17][18][19][20][21][22][23] However, it has been demonstrated that within sibships, erythrokeratodermas can be static or migratory and can even pass from one state to another, indicating that their distinction may not be valid. 24 Furthermore, the nosology has been muddled by confusion about what 'keratoderma' means, with the term used both for the peculiar starfish lesions of Vohwinkel's syndrome and loricrin keratoderma as well as the scaling hyperkeratosis of erythrokeratoderma variabilis.…”

“…Cases have been described without mutations in any of these genes 7–9 . Several authors accept the existence of a nonmigratory but progressive erythrokeratoderma, called progressive symmetric erythrokeratoderma (PSEK) or Gottron erythrokeratoderma 10–23 . However, it has been demonstrated that within sibships, erythrokeratodermas can be static or migratory and can even pass from one state to another, indicating that their distinction may not be valid 24 .…”

Erythrokeratodermas: A classification in a state of flux?

“…The picture is further confused with the description by Emmert and colleagues of a mother and young son, both of whom had by the age of 6 months developed symmetrical erythematous hyperkeratotic plaques, completely consistent with PSEK, on the extremites and face 80 . In each patient, however, the disease progressed in early childhood to involve the entire skin in an eruption, which was entirely consistent with lamellar ichthyosis.…”