You have full access to this open access article. X-linked reticulate pigmentary disorder XLPDR is a very rare inherited disease with prominent skin hyperpigmentation and multiorgan involvement dominated by autoinflammatory manifestations in the eyes, the urinary tract, and recurrent infections, particularly in the respiratory tract.
An intronic POLA1 mutation c. In affected males, the disease typically manifests in the first months of life with failure to thrive, recurrent pneumonias, persistent diarrhea in infancy, and pathognomonic diffuse hyperpigmentation and characteristic facies [ 2 ]. The patient described here was born in into a Caucasian, non-consanguineous family via spontaneous vaginal delivery at term. The index patient has two older, healthy brothers and healthy parents.
At the age of four weeks, he was admitted to the hospital due to low weight for age Fig. During the admission, he developed mild bloody diarrhea. All laboratory tests performed at that time blood count, electrolytes, liver parameters, clotting time, thyroid function, viral serologies, screening for inborn metabolic disorders, stool screenings for malabsorption, and infections were within reference ranges.
Since the age of six months, his weight follows percentiles 3โ15 Supplementary Fig. On clinical examination during the hospitalization, a mild muscular hypotonia was noticed and further tests MRI of the head, abdominal ultrasound, EEG, and referral to the ophthalmologist were arrangedโall with normal results. Neuropediatric follow-up was arranged due to the mild muscular hypotonia but was stopped at the age of 2 years because a normal development was objectified.
Over the next years, the patient suffered from recurrent otitis media, sinusitis, and several pneumonias. Despite the performance of an adenoidectomy, tympanocentesis, and dacryocystorhinostomy at the age of four, a purulent obstructive rhinosinusitis persisted. Primary ciliary dyskinesia was excluded by biopsy, and no disease-associated mutations were detected in the cystic fibrosis CFTR gene. Skin prick testing for allergies was negative.
