X Linked Reticulate Pigmentary Disorder in an Adolescent: A Lesson to be Learned

We report a severe end stage lung disease in a 16 year old boy who was admitted to our hospital due to severe respiratory distress, hypoxemia and fever.

The adolescent was treated as having asthma from childhood but did not undergo any investigation or any previous chest x ray.

Upon admission he demonstrated diffused reticulate hyper pigmentary lesions on his extremities, dysmorphic face. His arterial blood gas revealed partially compensated respiratory acidosis and his Chest X ray demonstrated marked hyperinflation with diffuse peripheral infiltrates.

He was admitted to the pediatric intensive care unit with the diagnosis of a severe asthma exacerbation and was non- invasive ventilated by a high flow nasal cannula.

During his hospitalization, he underwent a comprehensive diagnostic work with extensive infectious and rheumatology work up, skin biopsy, several bronchoscopies with broncho-alveolar lavage and trans-bronchial biopsy. His characteristic face, skin manifestations, digital clubbing, corneal opacities, failure to thrive and bronchiectasis (shown on high-resolution computed tomography) made us perform a direct genetic testing for X linked reticulate pigmentary disorder (XLPDR) which returned positive for the specific deep intronic mutation in the Polymerase (DNA) alpha 1 gene (POLA1).

He was treated with pulse systemic steroids, azithromycin and beta adrenergic inhalation and mycophenolate. He necessitated invasive ventilation and eventually died while awaiting transplantation. A post mortem lung biopsy was performed.

As far as we know, this is the severest clinical manifestations that have been reported in this rare genetic disorder, so far described in only 14 families in the world.