Here, we report a 5‑year‑old boy with PPK associated with toe walking due to short Achilles tendon, which was not previously reported, to our knowledge.
📌 3 Key Takeaways
🎯
Objective & Hypothesis:Phacomatosis pigmentokeratotica (PPK) is characterized by the co‑occurrence of speckled lentiginous nevus (nevus spilus) and an organoid nevus with or without extracutaneous involvement.
📊
Key Findings & Data:The PPK is also associated with an increased risk of cutaneous or extracutaneous tumors.
💡
Conclusion & Impact:Here, we report a 5‑year‑old boy with PPK associated with toe walking due to short Achilles tendon, which was not previously reported, to our knowledge.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Abstract
Phacomatosis pigmentokeratotica (PPK) is characterized by the co‑occurrence of speckled lentiginous nevus (nevus spilus) and an organoid nevus with or without extracutaneous involvement. The extracutaneous manifestations may vary widely with musculoskeletal, neurologic, ocular, and vascular findings. The PPK is also associated with an increased risk of cutaneous or extracutaneous tumors. Therefore, the patients with PPK should be followed up regularly for possible malignant transformation. Here, we report a 5‑year‑old boy with PPK associated with toe walking due to short Achilles tendon, which was not previously reported, to our knowledge.
🔖
Cite This Article
YÜCELTEN, A. D., SALMAN, A., CAKİCİ, Ö. A., UNVER, O. (2022). Phacomatosis Pigmentokeratotica Associated with Unilateral Toe Walking Due to Short Achilles Tendon. Türk Dermatoloji Dergisi, Cilt: 14 - Sayı: 4, 106–108. https://ajindex.com/articles/621525
Boente Mdel C, Asial RA, Happle R. Phacomatosis pigmentokeratotica: A follow‑up report documenting additional cutaneous and extracutaneous anomalies. Pediatr Dermatol 2008;25:76‑80
Wollenberg A, Butnaru C, Oppel T. Phacomatosis pigmentokeratotica (Happle) in a 23‑year‑old man. Acta Derm Venereol 2002;82:55‑7
Groesser L, Herschberger E, Sagrera A, Shwayder T, Flux K, Ehmann L, et al. Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell. J Invest Dermatol 2013;133:1998‑2003
Happle R. Phacomatosis pigmentokeratotica is a pseudodidymosis. J Invest Dermatol 2013;133:1923‑5
Om A, Cathey SS, Gathings RM, Hudspeth M, Lee JA, Marzolf S, et al. Phacomatosis pigmentokeratotica: A mosaic RASopathy with malignant potential. Pediatr Dermatol 2017;34:352‑5
Happle R, Hoffmann R, Restano L, Caputo R, Tadini G. Phacomatosis pigmentokeratotica: A melanocytic‑epidermal twin nevus syndrome. Am J Med Genet 1996;65:363‑5
Gruson LM, Orlow SJ, Schaffer JV. Phacomatosis pigmentokeratotica associated with hemihypertrophy and a rhabdomyosarcoma of the abdominal wall. J Am Acad Dermatol 2006;55:16‑20
Chantorn R, Shwayder T. Phacomatosis pigmentokeratotica: A further case without extracutaneous anomalies and review of the condition.Pediatr Dermatol 2011;28:715‑9
Bouthors J, Vantyghem MC, Manouvrier‑Hanu S, Soudan B, Proust E, Happle R, et al. Phacomatosis pigmentokeratotica associated with hypophosphataemic rickets, pheochromocytoma and multiple basal cell carcinomas. Br J Dermatol 2006;155:225‑6
Prieto‑Barrios M, Llamas‑Martin R, Velasco‑Tamariz V, Calleja‑Algarra A, Ruano Y, Ortiz‑Romero PL, et al. Phacomatosis pigmentokeratotica: A case of HRAS mosaicism causing rhabdomyosarcoma. Br J Dermatol 2018;179:1163‑7. 108