Key features ▪ The porphyrias result from dysfunction of enzymes involved in heme biosynthesis ▪ The different types can be classified into either acute versus non-acute or cutaneous versus non-cutaneous forms ▪ Cutaneous symptoms exclusively involve sun-exposed areas of the…
Introduction The cutaneous deposition disorders are a heterogeneous group of conditions characterized by the presence of primarily endogenous substances within the dermis or the subcutis. Deposition disorders can be associated with localized or generalized cutaneous findings, and skin involvement is…
Synonyms ▪ Primary systemic amyloidosis – AL amyloidosis ▪ Secondary systemic amyloidosis – AA amyloidosis Subtypes ▪ Primary cutaneous amyloidosis – macular amyloidosis, friction amyloidosis, lichen amyloidosis (lichen amyloidosus), biphasic amyloidosis, dyschromic amyloidosis, nodular amyloidosis Key features ▪ Characteristic properties…
Key features ▪ The cutaneous mucinoses are a heterogeneous group of disorders in which an abnormal amount of mucin accumulates in the skin ▪ The etiopathogenesis of cutaneous mucinoses is unknown ▪ The cutaneous mucinoses are divided into two groups:…
Although all the disorders in this chapter represent inflammatory systemic diseases, there are two major groups based upon underlying pathomechanisms. Disorders such as systemic-onset juvenile idiopathic arthritis (Still disease) and inherited autoinflammatory diseases are related to abnormalities in the innate…
Morphea and lichen sclerosus are inflammatory skin diseases that ultimately evolve into two distinct modes of cutaneous sclerosis. In morphea, there is inflammation of the dermis that may extend into subcutaneous structures. Lichen sclerosus is primarily a disease of the…
Systemic Sclerosis Synonyms Systemic sclerosis: ▪ Scleroderma ▪ Progressive systemic sclerosis Subtypes of cutaneous involvement: ▪ Diffuse ▪ Limited (includes CREST syndrome) Key features ▪ An uncommon autoimmune connective tissue disease of unknown etiology ▪ Characterized by symmetric hardening of…
Synonyms ■ Dermatomyositis ■ Idiopathic inflammatory myopathies ■ Idiopathic inflammatory dermatomyopathies Key features ■ Autoimmune connective tissue disease of uncertain etiology demonstrating a bimodal age distribution with both juvenile and adult forms ■ Clinical and laboratory signs of proximal extensor…
Synonyms/variants ▪ Discoid lupus erythematosus: a subset of chronic cutaneous lupus erythematosus ▪ Lupus profundus: a variant of lupus panniculitis ▪ Lupus erythematosus tumidus: tumid lupus Key features ▪ There are several variants of cutaneous lupus, defined in part by…
Key features ▪ Autoantibodies can be of significant value in the diagnosis, management, and prognosis of autoimmune connective tissue diseases (AI-CTDs), but their interpretation depends on the type of autoantibody and the specific AI-CTD ▪ The classic ANA assay remains…