title: Cole disease: hypopigmentation with punctate keratosis of the palms and soles.
abstract: Cole disease is an uncommon disorder characterized by distinctive cutaneous hypopigmentation and punctate keratosis of the palms and soles. It is a congenital skin disease with an autosomal dominant inheritance pattern. We report two patients from a family with 15 members, 5 of whom were affected. One of the patients had both types of lesions since birth, while in the other they arose in the first months of life. We studied the pedigree, histopathology, immunohistochemistry, and electron microscopy findings of the hypopigmented macules with the patients' normal skin used as a control. The pedigree showed involvement of both genders, with a Mendelian autosomal dominant inheritance pattern with phenotypic variability in the family. Immunohistochemistry showed a reduction in the melanin pigment in the keratinocytes and normal pigmentation in the melanocytes. Ultrastructural studies showed a strong contrast between the large number of melanosomes in the body and dendrites of the melanocytes, in contrast with the small number of these organelles in the neighboring keratinocytes. These findings suggest that this disease is a primary congenital disorder of the transfer mechanisms of the melanosomes from melanocytes to keratinocytes in hypopigmented lesions, associated with abnormal epidermopoiesis in the punctate hyperkeratosis.
authors.affiliation: Department of Dermatology, Electronic Microscopy Unit, Hospital de Clínicas, Montevideo, Uruguay. rvignale@adinet.com.uy
authors.forename: Raúl
authors.initials: R
authors.lastname: Vignale
authors.forename: Alejandra
authors.initials: A
authors.lastname: Yusín
authors.forename: Ana
authors.initials: A
authors.lastname: Panuncio
authors.forename: Jorge
authors.initials: J
authors.lastname: Abulafia
authors.forename: Zoraya
authors.initials: Z
authors.lastname: Reyno
authors.forename: Alicia
authors.initials: A
authors.lastname: Vaglio
mesh_terms: D001707:Biopsy, Needle; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D017496:Hypopigmentation / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D007150:Immunohistochemistry; D007645:Keratoderma, Palmoplantar / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D008854:Microscopy, Electron; D010375:Pedigree; D011379:Prognosis; D035781:Siblings; D012867:Skin / Q000473:pathology / Q000648:ultrastructure; D012873:Skin Diseases, Genetic / Q000175:diagnosis