Management of other<unk> LPDR symptoms is largely supportive. Conventional management of recurrent lung infections with antibiotics is essential; many patients receive inhaled prophylactic management akin to cystic fibrosis patients. Urethral strictures are treated with sequential dilations. Eye involvement is progressive, leading to blindness, and recurs after corneal transplantation. Recently, a number of reports suggest encouraging results with the use of JAK inhibitors baricitinib and ruxolitinib in several distinct type I interferonopathies. In fact, one<unk> LPDR patient with refractory colitis was treated with tofacitinib with positive response of the colitis and no exacerbation of pulmonary infections. Other options that may be worth considering in the future are interferon receptor neutralizing antibodies, which are being actively pursued in the treatment of lupus where they show particular promise. A path for definitive treatment for<unk> LPDR is at present unclear, but it is tempting to speculate whether the immunologic disturbance is predominantly driven by the hematopoietic compartment. The clinical course of the eye involvement is consistent with this possibility. If so, the<unk>  might be amenable to hematopoietic stem cell transplantation and could even be suitable for gene therapy and autologous stem cell transplant.
X-linked reticulate pigmentary disorder
Pure hair-nail type ectodermal dysplasia
Oculocutaneous albinism
Linear atrophoderma of Moulin
Yemenite deaf-blind hypopigmentation syndrome
Spastic ataxia-corneal dystrophy syndrome
Oculocutaneous albinism type I
Aromatic L-amino acid decarboxylase deficiency