Congenital absence of dermatoglyphs

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

“…The dermal structure is irregular in patients with adermatoglyphia and blistering, whereas patients without a tendency to blister have regular rete ridges and dermal papillae despite a complete absence of eccrine glands and coils. 4,8,9 It is conceivable that families reported with associated blisters and other clinical findings have a subtype of congenital epidermolysis bullosa, leading to absence of fingerprints. By contrast, isolated adermatoglyphia is the result of a developmental defect during embryogenesis.…”

“…[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.…”

“…Most families missing epidermal ridges, except for one kindred described by Limová et al, 8 have additional distinctive characteristics, eg, congenital facial milia, or blisters and fissures associated with heat or trauma. We describe a second large family with autosomal dominant isolated absence of fingerprints.…”

“…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.…”