What are some diseases that have both skin and renal manifestations?

Systemic sclerosis

Autoimmune disease involving anti–Scl-70, anticentromere, and other antinuclear antibodies resulting in progressive sclerosis of skin and internal organs

Scleroderma, morphea, sclerodactyly, telangiectatic mats, calcinosis cutis, Raynaud’s syndrome

Internal organ involvement is frequent and may affect the esophagus, heart and kidneys; lung involvement is the leading cause of death

Primary systemic amyloidosis (accumulation of amyloid fibrils within vital organs leads to atrophy of normal tissue and interferes with the normal functioning of the organ)

Deposits of immunoglobulin light chain (AL), or, less often, heavy chain (HL), around vessels and functional units of skin and internal organs

Pinch purpura; petechiae and ecchymosis around eyelids, neck, axilla, and anus; waxy or purpuric papules, nodules, or plaques on face, neck, scalp, and digits; hemorrhagic blisters

Mucosa: macroglossia

Renal proteinuria and failure, hypoalbuminemia, edema, cardiac failure (congestive heart failure), neurologic deficits (peripheral and autonomic neuropathy), gastrointestinal (motility problems)

Secondary systemic amyloidosis (accumulation of amyloid fibrils within vital organs leads to atrophy of normal tissue and interferes with the normal functioning of the organ)

Deposits of amyloid A protein (AA) (chronic inflammatory diseases and hereditary periodic fever syndromes); deposits of β2 microglobulin (patients with chronic renal failure receiving hemodialysis)

No, or rare, cutaneous findings, but skin often biopsied for diagnosis (abdominal fat pad, minor salivary gland, rectal mucosa, buccal mucosa, tongue)

AA amyloidosis usually affects the kidneys, liver, spleen, adrenals and heart; synovial deposits of b2 microglobulin: carpal tunnel syndrome, bone cysts and destructive spondyloarthropathy

Tuberous sclerosis (Bourneville disease) Epiloia (epilepsy, low intelligence, angiofibroma)

TSC1 (chromosome 9q34) and TSC2 (chromosome 16p13); their protein products are hamartin and tuberin, respectively, which are integral to cell cycle and growth regulation

Skin: congenital hypopigmented macules (ash leaf macules), confettilike hypopigmentation, facial angiofibromas, collagenomas (Shagreen patch), periungual fibromas, café-au-lait macules; mucosa: gingival fibromas and dental enamel pits

Hamartomas can be found in the eye, brain, kidneys, liver, heart, lungs, and bones, sometimes progressing to malignancy; seizures, mental deficits and neuropsychiatric disturbances are common

Nail-patella syndrome (hereditary osteoonychodysplasia)

LMX1B gene: regulates collagen synthesis

Dysregulation of the synthesis of collagen in the glomerular basement membrane may contribute to the nephrosis

Hypoplasia of radial side of thumbnails, triangular lunula, absent or hypoplastic nails

Absent or hypoplastic patella, radial head dysplasia, iliac crest exostosis (iliac horns); nephropathy and renal insufficiency

FLCN (BHD) gene encodes the tumor suppressor protein folliculin

Fibrofolliculomas, trichodiscomas, and acrochordons

Lung cysts, spontaneous pneumothorax, and renal tumors (oncocytomas and chromophobe renal cell carcinoma); colon polyps; neural tumors

Hereditary leiomyomatosis and renal cell cancer (HLRCC)

FH gene: fumarate hydratase enzyme activity decreased

Multiple cutaneous leiomyomata or single leiomyoma with positive family history

Uterine leiomyomata (fibroids) and renal tumors