Kindred showing congenital absence of the dermal ridges (fingerprints) and associated anomalies

Absence of dermal ridge patterns: Genetic heterogeneity

“…The difficulty in distinguishing true aplasia (absence of the ridges) from severe ridge dissociation (interrupted and fragmented ridges) was emphasized by Goradia et a1 [1979], who proposed that ridge dissociation represents an intermediate expression between normal ridges and dermal ridge aplasia. Indeed, in most familial instances of total absence of the dermal ridges there was either sparing of a portion of the volar surface in some affected individuals [Baird, 1964;Basan, 19651 or less severe dissociation in which ridge direction can be discerned or the pattern type determined [Furuya, 1961 ;Dodinval et al, 197 1 ;Goradia et al, 19791.…”

The immigration delay disease: Adermatoglyphia–inherited absence of epidermal ridges

“…[4][5][6][7][8][9] An irregular number of sweat gland openings and complete absence of an epidermal ridge pattern were common to affected families. [4][5][6][7]9 Two individuals in the first described kindred showed incomplete loss. 4 In this and two other families, missing fingerprints were associated with additional clinical features (Table I).…”

“…[4][5][6][7]9 Two individuals in the first described kindred showed incomplete loss. 4 In this and two other families, missing fingerprints were associated with additional clinical features (Table I). [4][5][6][7]9 The case described by Limová et al 8 was similar to our index patient, with missing fingerprints on the hands and feet as an isolated feature without blistering or other anomalies (Table II).…”

“…Only 4 families with missing epidermal ridges as a key feature, inherited in an autosomal dominant pattern, are well documented in the English-language literature. [4][5][6][7][8][9] Development of epidermal ridge patterns is considered to be influenced by different embryologic processes during ectodermal ontogenesis. The malformations are classified into: ridge aplasia, ridge hypoplasia, ridge dissociation, and ridges-off-the-end.…”

Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome

“…2 Nine pedigrees with Basan syndrome have been reported worldwide. [3][4][5][6][7][8][9][10] Recently, Marks et al 10 identified SMARCAD1 (OMIM 612761) as a promising candidate gene for Basan syndrome in an American family. This gene encodes a member of the SNF subfamily of helicase proteins.…”