Cole disease: a case report and literature review

Abstract

EditorCole disease is a congenital genodermatosis, characterized by guttate hypopigmentation and punctate hyperkeratosis of the palms and soles, showing autosomal dominant inheritance. 1,2A 27-year-old woman presented with hypopigmented macules on her trunk and extremities and hyperkeratotic papules on her palms and soles. The dermal changes first appeared when she

Acral speckled hypomelanosis

“…Truncal guttate hypopigmetation in Darier disease is usually accompanied by other features, including greasy keratotic papules in seborrheic areas, acral keratoses, and V-shaped scalloping of the distal part of the nail 7 . Cole disease is characterized by palmoplantar hyperkeratotic papules and guttate hypopigmented macules affecting the trunk and extremities 8 . Tuberous sclerosis complex is a neurocutaneous disorder with neurologic, cutaneous, cardiac, and renal manifestations.…”

A novel ENPP1 mutation identified in a multigenerational family affected by Cole disease

“…Since the initial description of this condition in 1976, five cases have been reported in literature (Table 1). Three of the 5 cases had other affected family members 9 …”

Cole disease due to a novel pathogenic variant in the ENPP1 gene

“…Editor, Some evidences suggest that T helper (Th)2 cells may play a role in alopecia areata (AA) pathogenesis: epidemiological association between AA and atopic dermatitis (AD); altered expression or loss-of-function mutations of atopy-related genes in AA patients; upregulation of Th2 cytokines in lesional AA skin; elevated serum levels of immunoglobulin E (IgE) in some patients with AA; dupilumab efficacy in cases of AA. [1][2][3][4][5][6][7] Dupilumab, a monoclonal antibody for the treatment of AD, targets the IL-4 receptor subunit a, shared by IL-4 and IL-13 receptors. 8 Dupilumab effectiveness in AA was evaluated in a phase IIa clinical trial including 40 subjects receiving weekly subcutaneous dupilumab 300 mg, and 20 subjects receiving placebo.…”

“…Editor, Cole disease (COLED, MIM #615522) is a rare genodermatosis characterized by dyspigmentation and punctate palmoplantar keratoderma (PPPK) of which only 13 families have been reported in the literature to date. [1][2][3][4][5][6][7][8] We report an Indian family with Cole disease with a novel pathogenic variant in ENPP1 in the somatomedin-B-like2 (SMB2) domain.…”