title: [PENS (papular epidermal nevus with "skyline" basal cell layer)].
abstract: BACKGROUND
  PENS is a rare neuro-cutaneous syndrome that has been recently described. It involves one or more congenital epidermal hamartomas of the papular epidermal nevus with "skyline" basal cell layer type (PENS) as well as non-specific neurological anomalies. Herein, we describe an original case in which the epidermal hamartomas are associated with autism spectrum disorder (ASD).
  
  
  METHODS
  A 6-year-old boy with a previous history of severe ASD was referred to us for asymptomatic pigmented congenital plaques on the forehead and occipital region. Clinical examination revealed a light brown verrucous mediofrontal plaque in the form of an inverted comma with a flat striated surface comprising coalescent polygonal papules, and a clinically similar round occipital plaque. Repeated biopsies revealed the presence of acanthotic epidermis covered with orthokeratotic hyperkeratosis with occasionally broadened epidermal crests and basal hyperpigmentation, pointing towards an anatomoclinical diagnosis of PENS.
  
  
  CONCLUSIONS
  A diagnosis of PENS hamartoma was made on the basis of the clinical characteristics and histopathological analysis of the skin lesions. This condition is defined clinically as coalescent polygonal papules with a flat or rough surface, a round or comma-like shape and light brown coloring. Histopathological examination showed the presence of a regular palisade "skyline" arrangement of basal cell epidermal nuclei which, while apparently pathognomonic, is neither a constant feature nor essential for diagnosis. Association of a PENS hamartoma and neurological disorders allows classification of PENS as a new keratinocytic epidermal hamartoma syndrome. The early neurological signs, of varying severity, are non-specific and include psychomotor retardation, learning difficulties, dyslexia, hyperactivity, attention deficit disorder and epilepsy. There have been no reports hitherto of the presence of ASD as observed in the case we present.
  
  
  CONCLUSIONS
  This new case report of PENS confirms the autonomous nature of this neuro-cutaneous disorder associated with keratinocytic epidermal hamartoma syndromes.
authors.affiliation: Département de dermatologie, hôpital Saint-Éloi, université Montpellier 1, CHU, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France; Laboratoire d'anatomopathologie, hôpital Gui-de-Chauliac, CHU de Montpellier, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France.
authors.forename: C
authors.initials: C
authors.lastname: Pernet
authors.affiliation: Département de dermatologie, hôpital Saint-Éloi, université Montpellier 1, CHU, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France.
authors.forename: J
authors.initials: J
authors.lastname: Munoz
authors.affiliation: Département de dermatologie, hôpital Saint-Éloi, université Montpellier 1, CHU, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France. Electronic address: d-bessis@chu-montpellier.fr.
authors.forename: D
authors.initials: D
authors.lastname: Bessis
mesh_terms: D001706:Biopsy; D002648:Child; D002659:Child Development Disorders, Pervasive; D004817:Epidermis / Q000473:pathology*; D006222:Hamartoma / Q000473:pathology; D006801:Humans; D008297:Male; D009508:Nevus, Pigmented / Q000175:diagnosis*; D012878:Skin Neoplasms / Q000175:diagnosis*
keywords: Autism spectrum disorder; Autisme; Epidermal nevus; Hamartome épidermique; Neuro-cutaneous disorder; Neurologie; Neurology; PENS; Syndrome neuro-cutané; Troubles du spectre autistique