Olmsted Syndrome
- Gene mutations:
- Transient receptor potential cation channel subfamily V member TRPV3
- Membrane-bound transcription factor protease site 2; in X-linked recessive type
- X-chromosome linked lymphocyte regulated
- More commonly autosomal dominant than recessive with some cases of X-linked recessive inheritance
Membrane-bound transcription factor protease site 2 mutations:
Olmsted syndrome- Ichthyosis follicularis with atrichia and photophobia syndrome
- Keratosis follicularis spinulosa decalvans syndrome
- Altered transient receptor potential cation-channels leads to abnormal epidermal differentiation, hair maturation, inflammatory response, pain, and pruritus pathways
- Altered membrane-bound transcription factor protease site 2 leads to abnormal zinc metalloprotease production and subsequent aberrant cholesterol homeostasis
- Well-demarcated diffuse palmoplantar keratoderma, late flexion contractures / digital constriction / autoamputation
- Painful, pruritic perioral / perianal / intertriginous erythema and warty hyperkeratosis
- Flexure / extremity linear keratoses
- X-linked recessive type
- Alopecia totalis, nail
- Oral keratotic plaques, corneal dysplasia, erythromelalgia, deafness, joint laxity
- Skin infections, squamous cell carcinoma, melanoma
Pathology:
- Acanthosis, orthohyperkeratosis, parakeratosis, papillomatosis, perivascular inflammation
Differential:
- Mal de Meleda
- Vohwinkel syndrome
- 3-ketodihydrosphingosine reductase-related erythrokeratoderma
- Pachyonychia congenita
- Acrodermatitis enteropathica
- Mucocutaneous candidiasis
- Psoriasis
- Oral retinoids
- Excision of hyperkeratosis and skin graft
- Erlotinib (epidermal growth factor receptor inhibitor)