Create issue ticket

14 Possible Causes for Nephrolithiasis, Onset of Skin Lesions at Birth

  • Hypercalcemia

    Abstract Mutations of the CYP24A1 gene, encoding for the enzyme 25(OH)D-24-hydroxylase, can cause hypercalcemia, hypercalciuria, nephrolithiasis and nephrocalcinosis.[ncbi.nlm.nih.gov] Data from case reports and case series were collected regarding the presence of hypercalcemia and associated complications, birth history, and age of onset/resolution of skin[ncbi.nlm.nih.gov] Abstract We herein present a case of relapsed sarcoidosis with a deteriorated renal function accompanied by hypercalcemia, nephrolithiasis, and a ureteral stone in a woman[ncbi.nlm.nih.gov]

  • Chorioretinitis

    One month prior to presentation, his nephrolithiasis was treated with extracorporeal shock wave lithotripsy and ureteral stent placement.[joii-journal.springeropen.com] […] system Most common findings are respiratory distress syndrome and skin lesions May be associated with signs of meningitis Transmission during birth, postnatally via contact[amboss.com] Medical history was significant for a 4-year history of rheumatoid arthritis on oral prednisone 15 mg daily and a recent history of nephrolithiasis.[joii-journal.springeropen.com]

  • Palmoplantar Keratosis

    He hasalso moderate chronic renal failure (creatinine 50 clearance ml/min) complicating bilateral nephrolithiasis. Table 1.[pubs.sciepub.com] It is the combination of family history of both tylosis and oesophageal cancer, late onset skin lesions (i.e. substantially after birth but before puberty) and, more recently[ojrd.biomedcentral.com]

  • Familial Cutaneous Collagenoma

    Asymptomatic hypercalcemia is the most common manifestation: about 25% of patients have evidence of nephrolithiasis or nephrocalcinosis.[findzebra.com] The onset of the skin lesions is usually before puberty and they maybe present at birth (Verbov, 1977; Morrison et al., 1977).[docslide.com.br] Clinically,the skin lesions appear as small papules or discs which are asymmetrically distributed, but have apredilection for the extremities.[docslide.com.br]

  • Subcutaneous Fat Necrosis of the Newborn

    Gu LL, Daneman A, Binet A, et al. (1995) Nephrocalcinosis and nephrolithiasis due to subcutaneous fat necrosis with hypercalcemia in two full-term asphyxiated neonates: sonographic[link.springer.com] Data from case reports and case series were collected regarding the presence of hypercalcemia and associated complications, birth history, and age of onset/resolution of skin[ncbi.nlm.nih.gov] lesions and laboratory abnormalities.[ncbi.nlm.nih.gov]

  • Carney Complex

    Medical history was significant for chronic hypertension, nephrolithiasis, and an atrial myxoma excised in 2011.[ncbi.nlm.nih.gov] In some cases the disease is diagnosed at birth. Onset of the disease occurs commonly at a young age and the median age at detection is 20 years.[atlasgeneticsoncology.org] Spotty skin pigmentation lesions, such as lentigines (small, brown to black, non or slightly elevated, round or irregular) and blue nevi (large, blue to black, domed lesion[atlasgeneticsoncology.org]

  • Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

    COL11A2 Nance-Sweeney chondrodysplasia COL2A1 del, COL11A2 Navajo brainstem syndrome HOXA1 Neck cancer TP63 ( p63) Nemaline myopathy 4 (NEM4) TPM2 Nephroblastoma WT1 del Nephrolithiasis[uniklinik-freiburg.de] Onset is usually between ages six months and six years (range: birth to 11 years).[ncbi.nlm.nih.gov] Other manifestations include pigmented lesions on the skin, coarse facies, corneal opacities, and cardiac defects. Most affected children are apparently normal at birth.[ncbi.nlm.nih.gov]

  • Herlitz Disease

    Muscular dystrophy: 筋ジストロフィー Myotonia Congenita: 先天性筋強直症 Myotonic Dystrophy: 筋強直性ジストロフィー Myotubular Myopathy: 筋細管筋障害 Nail-patella syndrome: 爪・膝蓋骨症候群 Nemaline myopathy: ネマリン筋障害 Nephrolithiasis[thaifertility.com] The infantile form identified in the Holmes County Amish may have its onset before birth with blisters forming in utero and therefore lesions are often present at birth.[wohproject.org] […] fast-channel CHRNG 2q37.1 Escobar syndrome 265000 Multiple pterygium syndrome, lethal type 253290 CLCN5 Xp11.23-p11.22 Dent disease 300009 Hypophosphatemic rickets 300554 Nephrolithiasis[institutobernabeu.com]

  • Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome

    He hasalso moderate chronic renal failure (creatinine 50 clearance ml/min) complicating bilateral nephrolithiasis. Table 1.[pubs.sciepub.com] It is the combination of family history of both tylosis and oesophageal cancer, late onset skin lesions (i.e. substantially after birth but before puberty) and, more recently[ojrd.biomedcentral.com]

  • Intellectual Disability - Spasticity - Ectrodactyly Syndrome

    […] arthrogryposis type 5D Distal monosomy 3p Distal monosomy 6p Distal symphalangism Distal tetrasomy 15q Distal trisomy 15q Dobrow syndrome Dominant hypophosphatemia with nephrolithiasis[se-atlas.de] Stage 1 Onset birth-newborn period Skin erythema, vesicles, pustules Affects limbs and trund Occurs in linear distribution Stage 2 Skin papules Verrucous lesions Hyperkeratosis[nfed.org] […] syndrome Detection of deletions and/or duplications in FGD1 gene by MLPA Ablepharon-macrostomia syndrome Sanger sequencing of the TWIST2 gene Abnormal mineralization group: Nephrolithiasis[pentacorelab.hu]

Further symptoms

Similar symptoms