[MIM 301 220]

(X-linked cutaneous amylosis, XLPDR)

Prevalence: <1 / 1,000,000. X-linked dominant transmission of a mutation of the POLA1 gene (Xp22.11-p21.3) coding for the DNA polymerase alpha. It is a cutaneous disease with variable systemic manifestations.

In males,

-        brown, reticulated, diffuse hyperpigmented skin lesions developing in early childhood,

-        recurrent pneumonia, bronchiectasis

-        photophobia, corneal opacities (corneal dyskeratosis),

-        chronic diarrhea, gastrointestinal inflammation or colitis

-        failure to thrive,

-        hypohidrosis, poor heat tolerance

-        digital hippocratism,

-        urethral stricture

-        coarse hair and flared eyebrows.

In females,
the disease is exclusively cutaneous, with the development in early childhood of brown hyperpigmented skin lesions localized along Blaschko's lines.

The disease was initially considered to be cutaneous amyloidosis, but amyloid deposits are not a constant feature. Histology shows moderate hyperkeratosis, acanthosis with excess melanophages and melanin in the superficial dermis.

In males, there is an associated immune deficiency with increased plasma levels of interferon I but decreased plasma levels of IL 17A (susceptibility to bacterial infections) and interferon gamma (suspicion of mycotic infections).

Anesthetic implications:

immunosuppression

References :

-        Li X-Y, Ma D-L.
X-Linked Reticulate Pigmentary disorder.
JAMA Dermatology 2023 ; 159 :1383-4.

Updated: January 2024