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Table 1 Clinical characteristics of patients with KENS in the literature

From: Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutation

Case (reference)

1 [ 9 ]

2 [ 10 ]

3 [ 11 ]

4 [ 12 ]

5 [ 13 ]

6 [ 14 ]

7 [ 15 ]

8 [ 8 ]

Age at presentation (years)

Newborn

19

14

17

12

5

Newborn

21

Sex

F

M

M

F

F

F

F

M

Clinical features

EN following lines of Blaschko, rhabdomyosarcoma, micropolycystic kidneys and growth retardation

EN, urothelial-cell carcinoma of the bladder

Multiple EN, hypotonia of the right arm, thymoma, cystic lesions in hand and cervical bones

Systemic EN following the lines of Blaschko sharply bounded by ventral midline, scoliosis

Extensive EN and mild facial dysmorphy

Systematized EN, seizures, delayed language and psychomotor development, brain abnormalities

Verrucous hyperpigmented streaks sharply demarcated at midline, seizures and brain abnormalities (6 months)

Multiple EN, multiple spinal tumors, lipoma, duplic renal arteries, ectasia of aorta, scoliosis

Gene mutation

KRAS

HRAS

HRAS

FGFR3

FGFR3

FGFR3

FGFR3

PIK3CA

c.35G > A (p.Gly12Asp)

c.34G > A (p.Gly12Ser)

c.37G > C (p.Gly13Arg)

c.742C > T (p.Arg248Cys)

c.742C > T (p.Arg248Cys)

c.742C > T (p.Arg248Cys)

c.746C > G (p.Ser249Cys)

c.3140A > T (p.His1047Leu)

Tissue investigated:

        

-carrying mutation

Epidermal component EN, rhabodmyosarcoma

Epidermal nevus, 3 urothelial-cell carcinomas, lung metastasis, normal lung tissue, blood leukocytes and non-malignant urothelium

Both EN and thymoma

EN, oral mucosa and leucocytes

Verrucous EN

EN, blood leucocytes

EN, the unaffected skin, urothelial cells

Spinal tissue (neurofibromas)

-mutation absent

Dermal component EN, normal skin, blood

Bladder-muscle layer, 2 cutaneous angiomas

Lymphocytes

Hair roots, normal skin

Blood, buccal brushings, hair roots

Normal skin

Blood leucocytes

Dermis (posterior thoracic region)

  1. EN: epidermal nevus; F: female; m: male.