Phacomatosis pigmentokeratotica associated with hypophosphataemic rickets, pheochromocytoma and multiple basal cell carcinomas

Bouthors, J; Vantyghem, Marie-Christine; Manouvrier‐Hanu, Sylvie; Soudan, B; Proust, E; Happle, Rudolf; Piette, F.

doi:10.1111/j.1365-2133.2006.07313.x

Cited by 29 publications

(17 citation statements)

References 9 publications

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“…Poor nutrition, muscular atrophy and hypotonia, scoliosis and vitamin D resistant hypophosphataemic rickets made him small in stature and susceptible to fracture. The hypophosphataemic rickets were similar to the presentation of previous reports (4,5). He was mostly bedridden and could hardly turn his body.…”

Section: Case Reportsupporting

confidence: 86%

Phacomatosis Pigmentokeratotica: A Follow-up Report with Fatal Outcome

Chu

Wu²

2014

Acta Derm Venerol

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Phacomatosis pigmentokeratotica (PPK) was first described in 1996 (1) as a distinct disease characterised by coexistence of a large sebaceous naevus and speckled lentiginous naevus of the papular type. It can be associated with musculoskeletal, neurological and ophthalmological abnormalities (2). This is a follow-up report of a boy previously reported with grave extracutaneous abnormalities (3) who subsequently died of severe complications. CASE REPORTSix years ago, a premature boy was born at 34 weeks of gestation with multiple flesh-coloured verrucous plaques on his limbs, chest, back and both sides of the scalp and face along Blaschko's lines. The large and confluent patches and plaques gradually darkened and became raised with multiple papular speckles (Fig. 1). Two skin biopsies from the aforementioned lesions showed sebaceous naevus and melanocytic naevus, and PPK was diagnosed. After 5 years, these plaques had darkened and become more prominent, and papular speckles increased in number, with few fine vellus hair on his scalp (Fig. 2). He had multiple prematurity complications: retinal haemorrhage, neonatal jaundice and patent ductus arteriosus. Since 5 months of age, he suffered from recalcitrant status epilepticus; only valproic acid and nitrazepam were effective early in the course of epilepsy. Visual impairment was also noticed. An ophthalmological examination conducted by flash visual evoked potential showed normal latency but decreased amplitude over the occipital region, suggesting a bilateral retrochiasmatic problem. A brain echogram showed some ventriculomegaly and relative thinning of the corpus callosum. Mild right-sided hearing loss was confirmed by an audiobrainstem reflex test (ABR). He had severe musculoskeletal deformities, including underdeveloped teeth, scoliosis, low muscle power, and hypophosphataemia that was resistant to vitamin D treatment. The recalcitrant hypophosphataemia made him ricket-like in appearance. Significant retardation in growth and development had also been noted since he was 4 months old (3). Malignant tumours from the skin or internal organs were absent. However, he had been hospitalised frequently; he was malnourished since birth by poor digestive function and chronic diarrhoea. At the age of 2, biopsy of the stomach and duodenum indicated chronic inflammation and moderate villous atrophy. His teeth were underdeveloped with gingival enlargement over the right side of his mouth when he was 3 years old. At the age of 6, intractable hypoalbuminaemia (albumin, <3 g/dl), hypokalaemia (potassium, 2.5 mmol/l) and hypophosphataemia (phosphate, 1.3 mg/dl) could not be corrected by nasogastric tube feeding and necessitated total parenteral nutrition. Severe anaemia (haemoglobin, <9 g/dl) persisted, necessitating frequent blood transfusions to maintain cardiopulmonary function.Subsequently, physical and mental retardation was noted. Since birth, his best consciousness level was E4V2M4 and it worsened during illness. He could not express meaningful words or engage in intellectu...

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Section: Case Reportsupporting

confidence: 86%

Phacomatosis Pigmentokeratotica: A Follow-up Report with Fatal Outcome

Chu

Wu²

2014

Acta Derm Venerol

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“…First, their potential to develop true basal cell carcinoma appears to be higher than usually observed in Schimmelpenning syndrome. 103,[118][119][120][121][122][123] Second, photographs of some patients with PPK are notable 122,123 for an unusual variant of sebaceous nevus in the form of nevus marginatus, a lesion characterized by brown papules that border a flat erythematous central area of sebaceous hyperplasia, whereas the elevated margin shows features of a nonorganoid EN. 124 Third, patients with PPK are remarkably prone to develop 45,70,85,90,122,[125][126][127] The incidence of such association appears to be higher than that observed in Schimmelpenning syndrome.…”

Section: Schimmelpenning Syndromementioning

confidence: 99%

“…103,[118][119][120][121][122][123] Second, photographs of some patients with PPK are notable 122,123 for an unusual variant of sebaceous nevus in the form of nevus marginatus, a lesion characterized by brown papules that border a flat erythematous central area of sebaceous hyperplasia, whereas the elevated margin shows features of a nonorganoid EN. 124 Third, patients with PPK are remarkably prone to develop 45,70,85,90,122,[125][126][127] The incidence of such association appears to be higher than that observed in Schimmelpenning syndrome. Fourth, an earlier statement that coloboma and epibulbar lipodermoid, as observed in Schimmelpenning syndrome, have so far not been found to be associated with phacomatosis pigmentokeratotica 102 Schimmelpenning syndrome, 21 linear nevus sebaceus syndrome, 127 FeuersteineMims' neuroectodermal syndrome, 32 and ''nevus unius lateris.''…”

Section: Schimmelpenning Syndromementioning

confidence: 99%

The group of epidermal nevus syndromes

Happle

2010

Journal of the American Academy of Dermatology

208

171

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“…Phacomatosis pigmentokeratotica is often associated with neurological (mental retardation, epilepsy, deafness, hemiatrophy, dysesthesia, and hyperhidrosis), ophthalmological (strabismus and ptosis), and musculoskeletal (kyphosis, scoliosis, limb asymmetry, and hypertrophy) abnormalities, and rarely with hypertension, atrioventricular block, hypophosphatemic rickets, and pheochromocytoma 1–5,7–9 . Our patient also had mild scoliosis.…”

Section: Discussionmentioning

confidence: 61%