Alternative titles; symbols
SNOMEDCT: 111029001; ORPHA: 38; DO: 0060362;
Cytogenetic location: 2p25-p12 Genomic coordinates (GRCh38): 2:1-83,100,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 2p25-p12 | ?Keratoderma, palmoplantar, punctate type 3 | 101850 | Autosomal dominant | 2 |
Acrokeratoelastoidosis was first described and named by Costa (1953). Jung (1973) studied an extensively affected family. The palms and soles are primarily affected, but involvement may extend to the dorsum of the hands and feet in severe cases. The lesions are nodular and yellow with hyperkeratotic surfaces. The histology combines hyperkeratosis and disorganization of elastic fibers. No systemic manifestation has been detected. The differential diagnosis includes other forms of palmoplantar keratosis and palmoplantar xanthomata. Matthews and Harman (1977) observed the disorder in 2 brothers whose mother was also affected.
Fiallo et al. (1998) found that elastorrhexis was a feature of lesional skin as well as of apparently normal skin in a patient with AKE, suggesting that the disorder could be regarded as a generalized defect of elastic tissue that is limited to the dermis. It was not known why the lesions are predisposed to erupt on the margins of acral sites.
Stevens et al. (1996) classified this disorder as type III punctate PPK, type I being the Buschke-Fischer-Brauer disorder (see PPKP1A; 148600), and type II being porokeratosis punctata palmaris et plantaris (PPKP2; 175860). They noted that PPKP3 has also been called focal acrohyperkeratosis.
Stevens et al. (1996) indicated that PPKP3 is an autosomal dominant disorder.
In a linkage study of the large kindred reported by Jung (1973), Greiner et al. (1983) found a suggestion of linkage of AKE to ACP1 (171500), JK (111000) and IGKC (147200). Although the lod scores did not reach the level of significance considered to be proof, the fact that all 3 of these markers are on 2p suggests that AKE may be there also. Maximum lod scores were as follows: with IGKC, 0.57 at theta 0.16; with ACP1, 0.18 at theta 0.22; with Jk, 0.11 at theta 0.31.
Costa, O. G. Acrokeratoelastoidosis: a hitherto undescribed skin disease. Dermatologica 107: 164-167, 1953. [PubMed: 13116681]
Costa, O. G. Ackrokeratoelastoidosis. AMA Arch. Derm. Syphilol. 70: 228-231, 1954. [PubMed: 13180028] [Full Text: https://doi.org/10.1001/archderm.1954.01540200088008]
Fiallo, P., Pesce, C., Brusasco, A., Nunzi, E. Acrokeratoelastoidosis of Costa: a primary disease of the elastic tissue? J. Cutan. Path. 25: 580-582, 1998. [PubMed: 9870680] [Full Text: https://doi.org/10.1111/j.1600-0560.1998.tb01745.x]
Greiner, J., Kruger, J., Palden, L., Jung, E. G., Vogel, F. A linkage study of acrokeratoelastoidosis: possible mapping to chromosome 2. Hum. Genet. 63: 222-227, 1983. [PubMed: 6221990] [Full Text: https://doi.org/10.1007/BF00284653]
Jung, E. G. Acrokeratoelastoidosis. Humangenetik 17: 357-358, 1973. [PubMed: 4694520] [Full Text: https://doi.org/10.1007/BF00273193]
Matthews, C. N. A., Harman, R. R. M. Acrokerato-elastoidosis in a Somerset mother and her two sons. Brit. J. Derm. 97 (suppl. 15): 42-43, 1977. [PubMed: 141935] [Full Text: https://doi.org/10.1111/j.1365-2133.1977.tb14320.x]
Matthews, C. N. A. Acrokerato-elastoidosis (without elastorrhexis). Proc. Roy. Soc. Med. 67: 1237-1238, 1974. [PubMed: 4449867]
Stevens, H. P., Kelsell, D. P., Bryant, S. P., Bishop, D. T., Spurr, N. K., Weissenbach, J., Marger, D., Marger, R. S., Leigh, I. M. Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24: literature survey and proposed updated classification of the keratodermas. Arch. Derm. 132: 640-651, 1996. [PubMed: 8651714]