Fig. 4.

A: Homozygosity mapping and whole-exon sequencing reveal SGPL1 mutations as causing a human syndrome with nephrosis, ichthyosis, adrenal insufficiency, or neurologic defects and immunodeficiency. Some features of SPLIS include the following. B: Ptosis. C: Skin image showing brownish black desquamation on sebostatic skin with multipleradial papules with a blueish/black erythema and central calcinosis. D, E: Median and ulnar nerve paralysis. F: H&E-stained epidermal section showing acanthosis/orthokeratotic hyperkeratosis (black arrowhead) and calcinosis (white arrowhead). G: Renal histology (silver staining) showing focal segmental glomerulosclerosis. Scale bars: 100 μm. Reproduced with permission from ref. 29.