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Keratodermia punctata palmaris et plantaris typ 1:
popis případu matky a dcery


Authors: L. Smižanský-Bari 1;  L. Drlík 1;  L. Pock 2
Authors place of work: Dermatovenerologická ambulance Mohelnice vedoucí lékař prim. MUDr. Lubomír Drlík 1;  Dermatohistopatologická laboratoř s. r. o., Praha vedoucí doc. MUDr. Lumír Pock, CSc. 2
Published in the journal: Čes-slov Derm, 90, 2015, No. 6, p. 243-247
Category: Case interpretation

Summary

Palmoplantar keratodermas are an extensive group of heterogenous acquired and inherited diseases. Modern molecular genetic methods have helped to clarify the etiopathogenetic relationships among the specific forms. Diagnosis is currently based on the clinical and histopathologic pictures and molecular genetics. Treatment is symptomatic, aiming to decrease palmoplantar hyperkeratosis. In our presentation we describe the case of mother and daughter with punctate palmoplantar keratosis type I.

Key words:
Keratosis Punctata Palmaris et Plantaris – Type 1


Zdroje

1. ASADI, M. D. Type I hereditary punctate keratoderma. Dermatol. Online J., 2003, 9, 4, p. 38.

2. BOLOGNIA, J. L., JORIZZO, J. L., RAPINI, R. P. Dermatology. 2nd ed., vol. 1, 2008, p. 787–788, ISBN 9781416029991.

3. BUSCHKE, A., FISCHER, W. Keratodermia maculosa disseminata symmetrica palmaris et plantaris. Ikonographia Dermatologica, 1910, 5, p. 183–192.

4. CALONJE, J. E., BRENN, T., LAZAR, A. J., MCKEE, P. H. McKee’s Pathology of the Skin. 4th ed., 2014, p. 75, ISBN 13-9781416056492.

5. CASTORI, M., RUGGIERI, S., GIANNETTI, L. et al. Schöpf-Schulz-Passarge syndrome: further delineation of the phenotype and genetic considerations. Acta Derm. Venereol., 2008, 88, 6, p. 607–612.

6. EMMERT, S., KÜSTER, W., ZUTT, M. et al. A new family with the rare genodermatosis keratosis punctata palmoplantaris Buschke-Fischer-Brauer. JAAD, 2003, 49, 6, p. 1166–1169.

7. ENA, P., COTTONI, F., CERIMELE, D. et al. Association of keratoderma punctata palmaris et plantaris with other morbid conditions (early grayness, carcinoma of the colon). Study of 3 families. G. Ital. Dermatol. Venereol., 1986, 121, p. 45–54.

8. GAMBORG NIELSEN, P., HOFER, P. A., LAGERHOLM, B. The dominant form of hereditary palmoplantar keratoderma in the northernmost county of Sweden (Norrbotten). Dermatology, 1994, 188, 3, p. 188–193.

9. GIEHL, K. A., ECKSTEIN, G. N., PASTERNACK, S. M. et al. Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. Am. J. Hum. Genet., 2012, 91, 4, p. 754–759.

10. GRILLO, E., PÉREZ-GARCÍA, B., GONZÁLEZGARCÍA, C. et al. Spiny keratotic projections on the palms and fingers. Spiny keratoderma. Dermatol. Online J., 2012, 18, 6, p. 8.

11. ITIN P. H., FISTAROL S. K. Palmoplantar keratodermas. Clin. Dermatol., 2005, 23, 1, p. 15–22.

12. JUDGE, M. R., McLEAN, W. H. I., MUNRO, C. S. Disorders of Keratinization. In Burns, T., Breathnach, S., Cox, N. Griffiths, C., editors. Rook’s Textbook of Dermatology. 8th ed., 2012, vol. 1, p. 9.93–19.119, ISBN 978-1-4051-6169-5.

13. KELSELL, D. P., STEVENS, H. P., RATNAVEL, R. et al. Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity. Hum. Mol. Genet., 1995, 4, 6, p. 1021–1025.

14. KIMYAI-ASADI, A., KOTCHER, L. B., JIH, M. H. The molecular basis of hereditary palmoplantar keratodermas. JAAD, 2002, 47, 3, p. 327–343.

15. LUCKER, G. P., VAN DE KERKHOF, P. C., STEIJLEN, P. M. The hereditary palmoplantar keratoses: an updated review and classification. Br. J. Dermatol., 1994, 131, 1, p. 1–14.

16. OZTAS, P., ALLI, N., POLAT, M. et al. Punctate palmoplantar keratoderma (Brauer-Buschke-Fischer syndrome). Am. J. Clin. Dermatol., 2007, 8, 2, p. 113– 116.

17. PIÉRARD-FRANCHIMONT, C., PIÉRARD, G. E., MELOTTE, P. et al. Keratosis punctata of the palmar creases. Ann. Soc. Belg. Med. Trop., 1989, 69, 3, p. 257–261.

18. POHLER, E., HUBER, M., BOONEN S. E. et al. New and recurrent AAGAB mutations in punctate palmoplantar keratoderma. Br. J. Dermatol., 2014, 171, 2, p. 433–436.

19. RATNAVEL, R. C., GRIFFITHS, W. A. The inheritedpalmoplantar keratodermas. Br. J. Dermatol., 1997, 137, 4, p. 485–490.

20. STEVENS, H. P., KELSELL, D. P., BRYANT, S. P. et al. Linkage of an american pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Arch. Dermatol., 1996, 132, 6, p. 640–651.

21. TORRES, G., BEHSHAD, R., HAN, A. et al. I forgot to shave my hands: A case of spiny keratoderma. JAAD, 2008, 58, 2, p. 344–348.

22. VAN STEENSEL, M. A., FRANK, J. Focal acral hyperkeratosis and acrokeratoelastoidosis: birds of a feather? JEADV, 2009, 23, 9, p. 1113–1114.

Štítky
Dermatology & STDs Paediatric dermatology & STDs
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