A neurocutaneous rarity: phacomatosis pigmentokeratotica

Archives of Dermatology, 1998

Background: The epidermal nevus syndromes include different diseases that have the common feature of mosaicism. One of these has been recently identified and named phacomatosis pigmentokeratotica, in analogy to phacomatosis pigmentovascularis. It is characterized by an organoid nevus with sebaceous differentiation, a speckledlentiginous nevus, and other associated anomalies. It has been hypothesized that this syndrome is caused by a particular genetic mechanism known as the twin-spot phenomenon. Observations: We describe 3 patients manifesting an association of organoid nevus showing sebaceous differentiation and speckled-lentiginous nevus with associated anomalies and update the neurologic findings of a previously described patient. Hemiatrophy seems to be a common finding in all cases; hyperpathia, dysesthesia, and hyperhidrosis, as well as other neurologic defects, may be present. Conclusions: The findings in these patients allowed us to better delineate this syndrome. Further studies are needed to elucidate the underlying genetic defect. At present, however, the hypothesis that best explains this phenotype is twin spotting. Clinical recognition of this syndrome can contribute to the classification of the epidermal nevus syndromes and give insight into unusual genetic mechanisms occurring in humans.

Dermatology, 2003

Phacomatosis pigmentokeratotica (PPK) is a rare syndrome defined by the association of an organoid nevus occasionally with sebaceous differentiation, a speckled lentiginous nevus, and other extracutaneous anomalies. A preterm male infant of only 830 g at 27 week gestational age had an organoid nevus showing sebaceous differentiation. Also, he had multiple speckled-lentiginous nevus. Correlating the observed clinical presentation with the histopathological findings, the diagnosis of PPK was established. There have been less than 10 cases of PPK without extracutaneous manifestation. We present an uncommon case of a preterm patient with PPK who had no extracutaneous abnormalities.

Journal of thee Medical Sciences (Berkala Ilmu Kedokteran)

Phacomatosis pigmentokeratotica (PPK) is a distinct epidermal naevus syndrome. The syndrome is characterized by the coexistence of an organoid naevus with sebaceous differentiation arranged along Blaschko's lines, a papular naevus spilus arranged in a checkerboard pattern, in association with other extracutaneous anomalies. We report on two cases of PPK. The first case was an 11-year-old girl with sebaceous naevus on the right side of the body following the lines of Blaschko present since birth, whereas a papular naevus spilus involving the dorsal area of the neck was noted at 8 years of age. The second case was a 15 year-old girl presented with sebaceous naevus on her face and neck and papular naevus spilus involving left side of her chest. Electroencephalography (EEG) of both cases revealed abnormal irritative epileptiform waves, and brain mapping showed symmetrical structures and no focus. The diagnoses of our two cases were based on clinical pictures of the coexistence of sebaceous naevus arranged along Blaschko's lines, a papular naevus spilus arranged in a checkerboard pattern, and EEG anomalies. To our knowledge, these cases were first reported in Indonesia. The association with various extracutaneous manifestation is often, as well as the possibility of malignant transformation. Hence a close follow-up of PPK patients is important, which may help in early recognition of the development of extracutaneous anomalies and the possibility of malignant transformation.

American Journal of Medical Genetics Part A, 2012

The term ''phacomatosis'' refers to a growing number of sporadic genetic skin disorders characterized by the combination of two or more different nevi and possibly resulting from non-allelic twin spotting. While phacomatosis pigmentovascularis (PPV) and pigmentokeratotica represent the most common patterns, some patients do not fit with either condition and are temporarily classified as unique phenotypes. We report on an 8-yearold boy with striking right hemihypoplasia, resulting in limb asymmetry and fixed dislocation of right hip. Skin on the affected side showed three distinct nevi: (i) A whorled, hairless nevus of the scalp in close proximity with (ii) epidermal hyperpigmentation following lines of Blaschko on the neck and right upper limb, and (iii) multiple telangiectatic nevi of the right lower limb and hemiscrotum. Didymosis atricho-melanotica was proposed for the combination of adjacent patchy congenital alopecia and linear hyperpigmentation, while phacomatosis atricho-pigmento-vascularis appears to define the entire cutaneous phenotype, thus implying the involvement of three neighboring loci influencing the development of distinct constituents of the skin. Given the striking asymmetry of the observed phenotype, the effect of mosaicism (either genomic or functional) for a mutation in a single gene with pleiotropic action and influenced by the lateralization pattern of early development cannot be excluded.

Clinical and Experimental Dermatology, 2007

Phacomatosis pigmentokeratotica (PPK) is a distinct epidermal nevus syndrome characterized by the association of an organoid nevus (ON) usually with sebaceous differentiation, a speckled lentiginous nevus (SLN), and extracutaneous anomalies. We report a case of a 21-yearold man with an epidermal nevus, multiple SLNs, and multiple compound melanocytic nevi of congenital type. He also had a prominent pigmented lesion on his left conjunctiva. To our knowledge, this is the first case of PPK in which the ocular lesion was biopsied and diagnosed as a compound melanocytic nevus. Physical examination as well as laboratory and imaging studies showed no other extracutaneous involvement.

Archives of Ophthalmology, 2011

Objective: To describe the features of phacomatosis pigmentovascularis (cesioflammea type). Design: Noninterventional retrospective case series composed of 7 patients. Results: Nevus flammeus combined with ipsilateral ocular melanocytosis or melanosis was seen in all 7 patients. Additional contralateral nevus flammeus was observed in 3 patients. Nevus flammeus (unilateral in 4 patients and bilateral in 3 patients) was distributed in trigeminal nerves V1 (n = 3), V2 (n = 7), and V3 (n=5). Related findings included diffuse choroidal hemangioma (n=1) and glaucoma (n=1), with no patients having brain hemangioma or seizures. Ocular pigmentary abnormalities (unilateral in all 7 patients) included congenital ocular melanocytosis (n=6) and conjunctival acquired melanosis (n = 1). Pigmentation was sectorial (partial) in 5 patients and complete in 2 patients. Melanocytosis involved the periocular skin in 1 patient, sclera in 2 patients, iris in 2 patients, and choroid in 4 patients. In 3

Pediatric dermatology, 2018

Phacomatosis pigmentovascularis is characterized by coexistent extensive cutaneous vascular (capillary) and pigmentary anomalies. We describe a 2-month-old infant presenting with classic features of phacomatosis pigmentovascularis 2b (phacomatosis cesioflammea). He was also found to have hitherto unreported associations in the form of extensive venous anomalies presenting as striking abdominal wall varicosities and persistent left superior vena cava and natal tooth.

Our Dermatology Online, 2022

Nevus of Ota and nevus of Ito are dermal melanocytoses, usually presenting themselves as a bluish-black or grayish-brown, patchy, diffuse, or mottled pigmentation of the skin. They share a common pathogenic mechanism involving failure in the migration of melanocytes from the dermis to the epidermis and differ only in the sites of their distribution on the body. Nevus of Ota, often unilateral, may rarely be bilateral or may involve the oral mucosa. Even rarer is its association with nevus of Ito and other extracutaneous features. A port-wine stain is a form of congenital capillary malformation presenting itself as a pinkish-red to purple discoloration, most commonly of the unilateral head and neck area. Only 25% of cases occur on other sites of the body. The presence of a port-wine stain in conjunction with two different dermal nevi has been an exceedingly rarely reported entity. Herein, we report a 26-year-old male who presented himself with a bilateral nevus of Ota with oral mucosal involvement and associated with nevus of Ito and a port-wine stain.

2011

A 2 4 y e a r o l d w o m a n p r e s e n t e d w i t h a s y m p t o m a t i c hyperpigmented bilateral patches on her temples, eyelids and forehead since birth. Furthermore, the patient had a congenital grey patch, compatible with Mongolian spot, on her buttock. She had no vascular or other cutaneous lesion. Histopathologic examination revealed bipolar dendritic melanocytes dispersed in a ribbon-like pattern between the collagen fibers and around the neurovascular bundles of the dermis. As far as we know, this is the first case of bilateral “congenital” nevus of Ota in association with a Mongolian spot reported in a patient.

Indian Journal of Dermatology, Venereology, and Leprology, 2010