autosomal recessive congenital ichthyosis 11

An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST1

An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24.

Signs and symptoms

• Curly hair
• Brittle hair
• Sparse body hair
• Sparse eyebrow
• Sparse hair
• Congenital ichthyosiform erythroderma
• Pruritus
• Curly eyelashes
• Sparse eyelashes
• Blepharitis

Also known as: IFAH syndrome; IHS; autosomal recessive ichthyosis with hypotrichosis; hypotrichosis-congenital ichthyosis syndrome; ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis