Differential Diagnosis

The primary clinical differential diagnoses to consider are autosomal recessive cutis laxa type 1A (ARCL1A), autosomal recessive cutis laxa type 1B (ARCL1B), and autosomal dominant cutis laxa type 1 (ADCL1): • ARCL1A (FBLN5-related cutis laxa) is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective tissue disorder such as inguinal hernias and hollow visceral diverticula (e.g., intestine, bladder). Occasionally, supravalvular aortic stenosis is observed. Considerable overlap exists between FBLN5- and LTBP4-related cutis laxa and the two entities are difficult to distinguish from each other purely on a clinical basis. In FBLN5-related cutis laxa, the skin features may be more pronounced. In LTBP-related cutis laxa, supravalvular aortic stenosis has not yet been observed, while bladder and gastrointestinal diverticula as well as rectal prolapse are more frequent. • ARCL1B (EFEMP2-related cutis laxa) is characterized by cutis laxa and systemic involvement, most commonly arterial tortuosity, aneurysms, and stenosis; retrognathia; joint laxity; and arachnodactyly. The severe arterial tortuosity seen in EFEMP2-related cutis laxa is absent in LTBP4-related cutis laxa. • ADCL1 (ELN-related cutis laxa) presents with generalized cutis laxa of variable severity. Aortic root dilatation and emphysema may occur as early as childhood and are progressive. However, emphysema is usually milder than in LTBP4-related cutis laxa . ARCL1A, ARCL1B, ADCL1 and other disorders to consider in the differential diagnosis of LTBP4-related cutis laxa are summarized in . Table 3. Disorders to Consider in the Differential Diagnosis of LTBP4-Related Cutis Laxa

Source: GeneReviews — "LTBP4-Related Cutis Laxa"