autoimmune polyglandular syndrome ( aps ) are rare endocrinopathies characterized by the coexistence of at least two glandular autoimmune features from a variable combination of ( a ) failure of parathyroid glands , adrenal cortex , gonads , pancreatic beta cells , gastric parietal cells , and thyroid gland , juvenile onset pernicious anemia and hepatitis ; ( b ) chronic mucocutaneous candidiasis ; and ( c ) dystrophy of dental enamel and nails , alopecia , vitiligo , keratopathy , and calcification of the tympanic membrane . neufeld et al . , in 1980 , identified four major subtypes , primarily distinguished according to characteristic patterns of disease combinations . aps type 1 , also known as autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy or multiple endocrine deficiency autoimmune candidiasis syndrome is an autosomal recessive disorder . it is clinically defined by the presence of at least two conditions of the triad that includes hypoparathyroidism , addison 's disease , and chronic mucocutaneous candidiasis . it develops as a monogenic mutation of autoimmune regulator ( aire ) gene , which maps to 21q 22.3 . this mutation affects the normal immunological tolerogenesis leading to the formation of auto - antibodies directed against specific tissue antigens . a 35-year - old female under medical care for frequent episodes of seizure was referred to us for evaluation of the symptom of burning sensation in the mouth . history revealed that the patient was a full term normal delivery baby with normal physical and mental development during childhood . at the age of 11 years , she developed seizures that had increased in frequency over the next 6 years . 2 months prior to coming to the hospital , the seizures had become almost a daily occurrence and she was managed with anticonvulsants . she developed bilateral congenital cataracts 10 years earlier and this had gradually progressed to total blindness . general examination revealed her height after the age of 12 years had been consistently below the 5 percentile level , a family history of short stature , flexion contractures of the fingers [ figure 1 ] , and no sensory abnormalities . dysmorphic nails were evident on the right index finger , left thumb , right great toe , and right fifth toe . the hair on the scalp and eyebrows were normal . intra - oral examination revealed flaring of anterior teeth ; clinically missing permanent canines , third molars , right maxillary and left mandibular premolars ; retained left maxillary deciduous canine , left mandibular deciduous canine and second molar ; and enamel hypoplasia in left mandibular anteriors . scrappable curdy white patches positive for fungal hyphae were present in multiple sites of the oral mucosa and angular cheilitis was evident [ figure 2 ] . right - hand shows flexion contractures of the fingers ( arrow ) and dysmorphic nail ( arrowhead ) . intra - oral view of the mucosa shows scrappable curdy white patches ( arrow ) . orthopantomograph [ figure 3 ] revealed multiple impacted permanent teeth with delayed eruption and incomplete root formation . laboratory investigations revealed decreased serum calcium 1.25 mmol / l ( 2.12.6 mmol / l ) and intact parathormone 0.3 pmol / l ( 1.25.8 mmol / l ( 0.81.5 mmol / l ) and normal magnesium 0.5 mmol / l ( 0.71.0 mmol / l ) levels . other parameters like serum sodium , potassium , cortisol , thyroxine , thyrotropin , plasma glucose , liver function test , and hemogram were within normal limits . computed tomography ( ct ) brain [ figures 4 , 5 ] revealed extensive symmetric parenchymal calcifications involving the basal ganglia , cerebellar , and subcorticol regions . orthopantomograph shows multiple impacted permanent teeth ( arrow head ) with delayed eruption and incomplete root formation ( arrow ) . axial ct of brain shows diffuse , symmetric parenchymal calcifications in the cerebellar region ( arrow ) . axial ct of brain shows extensive symmetric calcifications in the frontal lobe ( black straight arrow ) , periventricular region ( black curved arrow ) , basal ganglia ( red straight arrow ) , and parietal lobe ( red curved arrow ) . the history and clinical features of hypoparathyroidism , oral candidiasis , nail dystrophy , enamel hypoplasia , and hypogonadism led us to the diagnosis of aps type 1 . dental management was directed toward symptomatic relief with topical antifungal medication and the patient was referred to an endocrinologist . although aps-1 is rare , its prevalence is rather high among finns ( 1:25,000 ) , sardinians ( 1:14,500 ) , and iranian jews ( 1:9,000 ) . the manifestation begins in early life and , therefore , is also called juvenile autoimmune polyendocrinopathy earlier the onset , it is more likely that multiple diseases features will develop over time . our patient presented with hypoparathyroidism and oral candidiasis , the two components of the classic triad of aps-1 . the disease components developed during childhood , beginning with bilateral cataracts leading to blindness at the age of 10 years . oral candidiasis was a more recent development leading to severe burning sensation in the mouth . the patient reported that the symptom had been present for many years but had been milder in intensity and hence had been neglected . the diagnosis of hypoparathyroidism was based on low or undetectable parathormone ( < 1.6 pmol / l ) , low calcium ( < 2 mmol / l ) , increased phosphorus ( > 1.6 hypoparathyroidism present in majority of cases ( 8085% ) is often asymptomatic and manifests tetany when calcium levels are significantly reduced . the typical age of onset of hypoparathyroidism in aps type 1 is 5 - 9 years . the first seizure episode was at 11 years of age and diagnosis of hypoparathyroidism may have been delayed due to lack of appropriate medical referral and facility . phenytoin can be epileptogenic in the presence of hypocalcemia , as it increases metabolism of active vitamin d to its inactive form by hepatic enzyme induction . lack of active vitamin d results in reduced calcium absorption from gut and reduced calcium mobilization from bones , leading to worsening of hypocalcemia . this possibility must be considered as the cause of worsening seizure control in our patient who was on phenytoin , without being supplemented with calcium and vitamin d. although , chromosome 22q 11.2 deletion syndrome involves both hypoparathyroidism and epilepsy , in the present case there were no typical features of this syndrome including cardiac anomalies or skeletal defects . chronic hypoparathyroidism leads to visual impairment from cataracts , and if treatment is delayed may lead to total blindness . the progression of congenital cataract can also be enhanced by coexisting hypoparathyroidism , the metabolic disturbance , during which the breakdown of proteins and lipids liberates sulfates , phosphates , and carbonates , which are precipitated by calcium already present in the lens . however , the infectious causes of congenital cataracts were excluded as serology results were negative . long - standing hypoparathyroidism leads to microscopic colloid deposition around cerebral blood vessels , followed by calcification most commonly in the basal ganglia , thalami , dentate nuclei , cerebral cortex , and mesencephalic gray matter . the dental findings of delayed teeth eruption and incomplete root formation in idiopathic hypoparathyroidism as reported by alice kelly et al . the enamel defects are mostly hypoplastic in the form of pits , missing enamel , and grooves , correlating with the age of onset of hypocalcaemia . short roots , hypodontia , and cessation or delay in tooth eruption can also be observed . the oral health of individuals with autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy ( apeced ) is poor compared with controls and has a higher prevalence of periodontal disease , caries , erosion , and enamel defects . the next component , mucocutaneous candidiasis is reported to be the initial common presentation occurring in almost 100% of cases , often before the age of 5 years . however , our patient had sought medical advice for symptoms of candidiasis only at 35 years of age . ahonan et al . reported that candidiasis was not a reliable hallmark of apeced as it was mild , remittent , and appeared much later than the endocrine components . it often affects the oral mucosa and sometimes the esophageal , vulvovaginal , perianal , or intestinal mucosa . the immune dysfunction leads to a selective deficit of t lymphocytes and thus an impaired response to antigens . when the oral mucosa is involved the presentation varies from mild intermittent angular cheilitis to more severe atrophic and hyperplastic forms . esophageal mucositis with substernal pain and dysphagia , symptomatic intestinal candidiasis with abdominal pain , flatulence , and diarrhoea may occur . skin and nail infection is limited to no more than 5% of the skin surface . the other feature of the disorder , addison 's disease was not evident in our patient . this component can manifest prior to , concomitantly with , or following hypoparathyroidism and is often signaled by anorexia , mucocutaneous pigmentation , and weakness . however , it can develop as late as in the fifth decade and hence the patient should be monitored at regular intervals for this feature . hypogonadism , presenting as total or partial failure of pubertal development or as premature ovarian failure is more frequent among females ( 60% ) than in males ( 14% ) . ectodermal manifestations other than enamel hypoplasia include dry skin , sparse brittle hair , keratoconjunctivitis , and punctate nail defects . regular follow - up with evaluation for organ function helps achieve a better quality of life .
autoimmune polyglandular syndrome ( aps ) type 1 is a rare hereditary disorder that damages organs in the body . 
 this disease entity is the result of a mutation in the aire gene . 
 it is characterized by three classic clinical features - hypoparathyroidism , addison 's disease , and chronic mucocutaneous candidiasis . for a patient to be diagnosed as having aps type 1 syndrome at least two of these features needs to be present . 
 the third entity may develop as the disease progresses . 
 we report a case of a 35-year - old female patient with a history of seizure from the age of 11 years , who was managed with anticonvulsant drugs . with worsening of the seizure episodes , 
 patient was diagnosed to have hypoparathyroidism together with the manifestations of oral candidiasis , nails dystrophy , enamel hypoplasia , and hypogonadism . 
 a diagnosis of aps-1 was considered . 
 the facility for genetic analysis of the aire gene mutation was not accessible , as the test costs were prohibitive and not affordable for the patient . 
 patient management was directed to treating individual disease components . 
 however , cerebral and dental changes were irreversible .