Alopecia universalis, renal stones, and hyperuricemia: a familial or an unfamiliar association.

Alopecia Universalis is an autoimmune disorder which sometimes may be associated with other autoimmune diseases like vitiligo, atopic dermatitis and endocrine disorders like hypothyroidism. In less than 2% of cases it may be associated with nephrotic syndrome although the underlying etiology has not been reported. We report here one similar case that had alopecia universalis beginning at the age of 17 years and simultaneously developed hyperuricemia. His son also developed alopecia universalis and renal stones at an early age of 10 years. The case represents one of the rare forms of alopecia namely alopecia universalis in two generations of the same family. Apart from this the case highlights the presence of renal stones probably due to hyperuricemia in both the generations which invokes a need to investigate any association of hyperuricemia with alopecia universalis.

Introduction

Alopecia universalis is an autoimmune disorder which may manifest at birth or adulthood. There have been few reports which mention its association with other autoimmune diseases like vitiligo, atopic dermatitis, and endocrine disorders like hypothyroidism. In less than 2% of cases it may be associated with nephrotic syndrome although the underlying etiology has not been reported. We report here one similar case that had alopecia universalis beginning at the age of 17 years and simultaneously developed hyperuricemia. He presented to us with renal stones and was diagnosed as suffering from nephrotic syndrome and metabolic syndrome. Interestingly, his son also developed alopecia universalis and renal stones at an early age of 10 years. The case represents one of the rare forms of alopecia namely alopecia universalis in two generations of the same family. Apart from this the case highlights the presence of renal stones probably due to hyperuricemia in both the generations which invokes a need to investigate any association of hyperuricemia with alopecia universalis.

Case Report

A 53-year-old man, nonalcoholic, nonsmoker, presented with complaints of persistent vomiting, burning micturation, increased frequency of urine since last 10 days, and pain and swelling in both feet and ankle since 15 days. There was history of similar pain in leg which started at the age of 17 years and later occurred frequently at varied intervals. There was history of loss of all hair from the body at the age of 17 year. He had been treated for left ureteric stone a year back and his family including his mother, two younger brothers, and one of his sons had renal stones. His son also lost his hair all over the body at the age of 10 years. On examination his pulse was 122 beats per min, blood pressure (BP) 70 mmHg systolic, respiratory rate (RR) 26/min, and he was afebrile. His anthropometric measurements were: Waist circumference 106 cm, height 170 cm, and weight 85 kg. He had bilateral tender swelling involving both feet and ankle. There were no hair on his body [Figure 1] and multiple skin tags around neck, axilla were found [Figures 2 and 3]. Systemic examination including cardiovascular, respiratory, and per abdomen were unremarkable. A probable diagnosis of alopecia universalis with urinary tract infection with systemic inflammatory response syndrome (SIRS) was made and patient was investigated. The investigations revealed: Hemoglobin (Hb) 12.2 g%, erythrocyte sedimentation rate (ESR) 74 mm in 1st h, total leukocyte count (TLC) 7,800/mm3, blood urea 125 mg/dl (17-43), serum creatinine 2.27 mg/dl (0.67-1.17), serum uric acid 21.7 mg/dl, total bilirubin 0.5 mg/dl, direct 0.2 mg/dl, total serum protein 6.0 mg/dl, albumin 3.9 mg/dl, serum glutamic-oxaloacetic transaminase (SGOT) 18 U/l, serum glutamic-pyruvic transaminase (SGPT) 15 U/l, alkaline phosphatase (ALP) 174 U/l, sodium 140 mEq/l, potassium 2.97 mEq/l, chloride 88 mEq/L, calcium 9.6 mg/dl, phosphorus 4.6 mg/dl, vitamin D 53.94 nmol/l, serum total cholesterol 287 mg/dl, triglyceride 404 mg/dl, high density lipoprotein (HDL) 36 mg/dl, low density lipoprotein (LDL) 170.2 mg/dl, very low density lipoprotein (VLDL) 80 mg/dl, prostate specific antigen (PSA) 1.04 ng/ml (<4), blood sugar (fasting (F)) 108 mg/dl, and HbA1c 5.7%. Urine examination showed presence of albumin, pus cells 20-25/high power field (HPF), red blood cell (RBC) 2-4/HPF, and no growth in urine culture. The 24 h urine protein was in nephrotic range with 7.07 g excretion/day. Thyroid stimulating hormone (TSH) was 14.51 μIU/ml (0.35-5.50), triiodothyronine (T3) 0.8 ng/dl (2-4.4), thyroxine (T4) 0.01 pg/dl (0.6-2.2), and C-reactive protein (CRP) was positive. Other investigation including arterial blood gas (ABG), human immunodeficiency virus (HIV), hepatitis C virus (HCV), hepatitis B surface anitgen (HBsAg), complement levels (C3, C4), antinuclear antibody (ANA), rheumatoid arthritis factor (RA), and anti-thyroid peroxidase (TPO) antibodies were not significant. Computed tomography (CT) scan of abdomen showed multiple crystals in both kidneys. Patient was treated with intravenous crystalloids, antiemetic (ondansetron/promethazine), antibiotic (levofloxacin), oral hypouricemic drug (fabuxostat), rozuvastatin, thyroxin, and tramadol. Patient started improving gradually and his uric acid level decreased from 21.7 to 10.4 mg/dl over a period of 2 weeks.

Figure 1

Absence of hair on face and scalp

Figure 2

Absence of hair in axilla

Figure 3

Multiple skin tags

Discussion

Alopecia universalis is an uncommon form of alopecia areata that involves the loss of all head and body hair and is estimated to account for 7-30% of all alopecia cases.[1] Alopecia areata may begin as early as the 1st month of life or as late as in the late 70s.[2] This case developed alopecia at the age of 17 years and his son developed the same at the age of 10 years. Studies in the past have reported similar familial association of alopecia areata which varied from 2 to 18% in different studies.[3] Alopecia universalis may occur in association with other autoimmune diseases such as vitiligo, lichen planus, morphea, lichen sclerosus et atrophicus, pemphigus foliaceus, atopic dermatitis, Hashimoto's thyroiditis, pernicious anemia, lupus erythematosus, Down's syndrome, and some endocrine disorders like hypothyroidism, Addison's disease, and diabetes mellitus.[456] This patient had severe hyperuricemia because of which he probably developed gout and later nephropathy. Other complications of hyperuricemia like metabolic syndrome and renal failure were also present in this case.[7] Hypothyroidism in this patient may be another endocrine association of alopecia universalis. Although nephrotic syndrome may be present in less than 2% of patients of alopecia universalis, the exact etiology for this is largely unknown. In our case the nephrotic syndrome may be an independent association or a complication of hyperuricemia.

Conclusion

The key conclusions drawn from this particular case are

It highlights the presence of an uncommon form of alopecia called alopecia universalis in different family members of the same family tree.

It reiterates the causal association of hyperuricemia and atherosclerosis manifested by metabolic syndrome in this patient.

Limitations of this case were

Any association of renal stones and alopecia universalis as in different members of this family could not be conclusively established and needed further investigations.

Hyperuricemic nephropathy could have been diagnosed by renal biopsy if the patient had given his consent.