Congenital Ichthyosiform Dermatosis With Linear Keratotic Flexural Papules and Sclerosing Palmoplantar Keratoderma

Abstract

Four members of a consanguineous family showed a congenital disorder characterized by an ichthyosiform dermatosis, sclerosing palmoplantar keratoderma, and multiple keratotic papules arranged in bands with a linear, cordlike distribution. This association seems to represent a distinct entity. The differential diagnosis is described.

Care of the newborn with ichthyosis

“…The striking linear keratoses in skin folds, which develop over time differentiate the disorders. Sweating can be impaired although previous reports do not indicate morbidity in the neonatal period from this (58,59). EM shows hypergranulosis and abnormally large keratohyalin granules.…”

Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

“…94 Diseases relatively new in the list of ichthyoses are loricrin keratoderma, also referred to as Camisa variant of Vohwinkel keratoderma (Fig 4, C ), [95][96][97] the cerebral dysgenesiseneuropathyeichthyosisePPK syndrome, 98 the arthrogryposiserenal dysfunctionecholestasis syndrome, 99-101 the mental retardationeenteropathye deafnesseneuropathyeichthyosisekeratodermia syndrome, 102 the ichthyosisehypotrichosisesclerosing cholangitis syndrome (also known as neonatal ichthyosis sclerosing cholangitis syndrome), 103-105 the ichthyosis hypotrichosis syndrome (Fig 5, I ) 106 and its allelic variant congenital ichthyosisefollicular atrophodermaehypotrichosisehypohidrosis syndrome, 107,108 and keratosis lineariseichthyosisecongenital sclerosing keratoderma (Fig 4, F ). 109,110 Erythrokeratodermia variabilis (EKV), [111][112][113] which is characterized by migratory erythematous patches and more fixed, symmetric hyperkeratotic plaques often with palmoplantar involvement (Fig 4, B), is genetically heterogeneous and can in 50% to 65% of cases 114 be caused by mutations in GJB3 coding for the gap junction protein connexin 31, 115 or GJB4 coding for connexin 30.3. 116 Whether Acral PSS, Acral peeling skin syndrome; AD, autosomal dominant; AR, autosomal recessive; CE, cornified cell envelope; CIE, congenital ichthyosiform erythroderma; EKV, erythrokeratodermia variabilis; IE, ichthyosiform erythroderma; KG, keratohyaline granules; KLICK, keratosis lineariseichthyosis congenitaekeratoderma; LB, lamellar body; LK, loricrin keratoderma; PPK, palmoplantar keratoderma; PSD, peeling skin disease; SC, stratum corneum; SG, stratum granulosum.…”

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“…At this time, a pattern of autosomal recessive inheritance was suggested. 1 In 1997, Vahlquist et al described a single case of a patient with a similar clinical condition, particularly with respect to the linear pattern of the lesions, which were predominantly situated in the flexor regions. There was no evidence of the Koebner phenomenon in association with the condition.…”