Pseudoxanthoma-elasticum-like syndrome Q82.8

Rongioletti F, 1992

Disease of the collagenous connective tissue of the skin that appears in the 6th or 7th decade of life, reminiscent of a pseudoxanthoma elasticum, but shows an almost complete loss of the elastic fibre material (Rongioletto F et al. 1992), but does not show any manifest systemic changes (see below)

The pathogenesis is considered to be multifactorial. Intrinsic or extrinsic (UV?) skin aging is under discussion; associations between the condition and hematologic disorders such as thalassemia (D56.9) and sickle cell disease (D57.1) have been described (Fabbri E et al. 2009; Hassan S et al. 2010).

A potential extrinsic trigger is supported by the fact that the lateral side of the neck is the most commonly affected site. However, most of the cases reported to date had no significant history of sun exposure; furthermore, areas protected from the sun can also be affected (Murshidi R et al. 2024). 

Especially women beyond the age of 6

Lateral neck, intertriginal, abdominal, bilateral forearms,

Regionally limited, round or oval, symmetrically arranged, strip-shaped, patchy, or focal, slightly raised, soft papules that may coalesce. Color: white to yellowish, “ivory-colored.” In the “mature” stage of development, yellowish papules and plaques appear with a granular surface texture reminiscent of plucked chicken skin (or cobblestone-like bumps).

In contrast to pseudoxanthoma elasticum, there are no changes in the oral mucosa.

No other organ involvement.

Thickening, clumping, or focal loss of elastic fibers in the papillary dermis.

A 77-year-old woman presented with an acquired papular “rash” that had been present for four years. Her medical history included a history of breast cancer, which was considered to be in remission. The rash had started in the right armpit and subsequently spread to the right side of the chest, the left armpit, the neck, and the right groin. The lesions proved to be completely asymptomatic. Clinically, non-follicular, flaccid, skin-colored papules that were not indentable were found. Histological examination with hematoxylin-eosin and orcein staining revealed papillary dermal elastolysis without elastorrhexis. Based on the clinical presentation of PXE and the histologically confirmed elastolysis, a diagnosis of PXE-PDE was made.

1. Fabbri E et al. (2009) Pseudoxanthoma elasticum-like syndrome and thalassemia: an update. Dermatol Online J 15:7

2. Gambichler T et al. (2014) Early-onset pseudoxanthoma elasticum-like papillary dermal elastolysis. J Eur Acad Dermatol Venereol 30:448–449

3. Hassan S et al. (2010) Pseudoxanthoma elasticum-like syndrome in a patient with sickle cell anemia. Br J Haematol 148:342
4. Jacquin-Porretaz C et al. (2020) “Pseudoxanthoma elasticum-like” papillary dermal elastolysis: a case report. Ann Dermatol Venereol 147:194–197.
5. Meyer S et al. (2005) Elastosis perforans serpiginosa-like pseudoxanthoma elasticum in a child with severe Moya Moya disease. Br J Dermatol 153:431–434
6. Murshidi R et al. (2024) Pseudoxanthoma elasticum-like papillary dermal elastolysis; a report of two cases and a literature review. Dermatol Online J 15:30
7. Revelles JM et al. (2012) Pseudoxanthoma elasticum-like papillary dermal elastolysis: an immunohistochemical study using elastic fiber cross-reactivity with an antibody against the amyloid P
8. component. Am J Dermatopathol 34:637–643.
9. Rongioletti F et al. (1992) Pseudoxanthoma elasticum-like papillary dermal elastolysis. J Am Acad Dermatol 6: 648–650
10. Rongioletti F et al (1995) Fibroelastolytic Patterns of Intrinsic Skin Aging: Pseudoxanthoma Elasticum-Like Papillary Dermal Elastolysis and White Fibrous Papulosis of the Neck. Dermatology 191:19–24.
11. Valbuena V et al. (2017) Pseudoxanthoma elasticum–like papillary dermal elastolysis: A single case report. J Cutan Med Surg 21:345–347.