Phacomatosis pigmentokeratotica associated with hemihypertrophy and a rhabdomyosarcoma of the abdominal wall

Phacomatosis pigmentokeratotica associated with compound melanocytic nevus of the conjunctiva

“…As mentioned earlier, ON and SLN are the main manifestations of PPK syndrome and may appear contralaterally or ipsilaterally. In some cases, one or both of these lesions are bilaterally distributed 5 . In our case, one ON was located on the left side of the neck and back, and multiple SLNs were distributed on the head, neck, trunk, and limbs bilaterally.…”

“…In our case, one ON was located on the left side of the neck and back, and multiple SLNs were distributed on the head, neck, trunk, and limbs bilaterally. Various types of melanocytic nevi including junctional, compound, dermal, dysplastic, congenital, spitz, and blue nevus have been noted to develop within the SLNs of patients with PPK 5,6 . A remarkable feature in our patient concerned the multiple melanocytic nevi of congenital type, with a speckled flag‐like pattern, which were seen on the face.…”

“…Other ophthalmologic assessments were normal. Other abnormalities, including rhabdomyosarcoma, 5 pheochromocytoma, 14 renal artery stenosis, 22 aortic stenosis, 19 arterial hypertension 19,22 , and hypophosphatemic rickets 4,14 have also been reported in PPK, but PPK is known to sometimes occur without systemic involvement 3,23,24,29 …”

Variant of phacomatosis pigmentokeratotica

“…Gruson et al. 9 also observed spatial overlap of the organoid and speckled lentiginous nevi in 33% of cases.…”

“…However, Gruson et al. 9 demonstrated that only 20% of the PPK cases which have been reported to date had a predominantly contralateral distribution. Ipsilateral distribution of the two types of nevi were found in 33% of the patients, 9 and the organoid nevi, speckled lentiginous nevi, or both were bilaterally distributed in 3%, 40%, and 3%, respectively 9 .…”