Dermatological abnormalities such as palmoplantar hyperkeratosis as well as other signs like short stature, microcephaly and osteoporosis point to the multisystemic character of the disorder. [doi.org]

Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present. [uniprot.org]

We report a 17-year-old boy presented to the endocrine clinic with delayed puberty and a 4-year's history of fatigue and muscle weakness. He had achalasia, alacrima, and skin and mucosal hyperpigmentation. [ncbi.nlm.nih.gov]

The patient reported generalized weakness, fatigue, anorexia recurrent fainting attacks, and progressive hyperpigmentation of the skin for 6 months. Regarding his past history. [endocrine-abstracts.org]

This report relates to two sisters, aged 8 and 12 years, who had vomiting, muscle weakness, alacrimia, excessive fatigue and dysphagia... [readbyqxmd.com]

CASE REPORT A seventeen year old young lady presented along with her fifteen year old younger sister with identical symptoms of dysphagia, excessive fatigue and skin pigmentation. [wjgnet.com]

The main features of Addison disease include fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin. The third major feature of triple A syndrome is a reduced or absent ability to secrete tears (alacrima). [ghr.nlm.nih.gov]

The younger sibling had several episodes of sporadic abdominal pain and vomiting. Their milestones had been normal and they had attained menarche and thelarche normally. [wjgnet.com]

pains Flat feet Mild concavity of the breastbone In the mosaic form of triple X syndrome, fewer cells have the extra X chromosome, so symptoms and characteristics, when they are present, are more mild. [everydayhealth.com]

pain Abdominal distention Kidney inflammation (pyelonephritis) Painful bladder condition (interstitial cystitis) Bladder spasms (spastic/hyperactive bladder) Recurrent urinary tract infections Shrinking bladder Abnormal urine output (slow stream) Urinary [undiagnosed.hms.harvard.edu]

Parents referred a regression in motor and relational skills at the age of 14 months, since when the patient showed repeated episodes of dyspnea, vomiting, and abdominal pains with swallowing difficulties. [hindawi.com]

Nine months prior to admission to the Beijing Children's Hospital, the patient had a vomiting incident without abdominal pain or regurgitation, which lasted 5–6 days. [spandidos-publications.com]

We report a 2-8/12 year-old male who presented with symptoms resembling cystic fibrosis (failure to thrive, developmental delay and recurrent diarrhea) and had elevated sweat chloride concentration. [ncbi.nlm.nih.gov]

There may also be signs of autonomic dysfunction with AAA, such as pupillary abnormalities, an abnormal reaction to intradermal histamine, abnormal sweating, orthostatic hypotension, and disturbances of the heart rate.Hypoglycemia (low blood sugar) is [rareconnect.org]

hypotension with compensatory tachycardia, muscle weakness, ataxia, parkinsonism, and motor peripheral neuropathy. [genedx.com]

Specific autonomic disturbances described in this syndrome include abnormal pupillary reflexes, poor heart rate variability, and orthostatic hypotension. [rarediseases.info.nih.gov]

There may also be signs of autonomic dysfunction with AAA, such as pupillary abnormalities, an abnormal reaction to intradermal histamine, abnormal sweating, orthostatic hypotension, and disturbances of the heart rate. [5] Hypoglycemia (low blood sugar [ipfs.io]

Later on, at the age of 20 years, a bone age delay of 6 years and severe osteoporosis was diagnosed. [ncbi.nlm.nih.gov]

Reevaluation 5-35 years after introduction of 12 mg/m(2)/day hydrocortisone showed low BMD for age in two children, osteopenia in one, and osteoporosis in six adults. [ncbi.nlm.nih.gov]

There may also be signs of autonomic dysfunction with AAA, such as pupillary abnormalities, an abnormal reaction to intradermal histamine, abnormal sweating, orthostatic hypotension, and disturbances of the heart rate.Hypoglycemia (low blood sugar) is [rareconnect.org]

The pattern and severity of neurologic and autonomic dysfunction in Triple-A syndrome is quite variable, including hyperreflexia, impaired visual evoked potentials, optic nerve atrophy, anisocoria (unequal pupil size), abnormal sweating, postural (orthostatic [genedx.com]

There may also be signs of autonomic dysfunction with AAA, such as pupillary abnormalities, an abnormal reaction to intradermal histamine, abnormal sweating, orthostatic hypotension, and disturbances of the heart rate. [5] Hypoglycemia (low blood sugar [ipfs.io]

People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia). [ghr.nlm.nih.gov]

The pattern and severity of neurologic and autonomic dysfunction in Triple-A syndrome is quite variable, including hyperreflexia, impaired visual evoked potentials, optic nerve atrophy, anisocoria (unequal pupil size), abnormal sweating, postural (orthostatic [genedx.com]

Author Sex Adrenal Neurological Associated deficiency abnormalities pathology Allgrove M Glucocorticoid No Hyperkeratosis of the (1978) [2] palms and soles, palm creases M Glucocorticoid No Episodic anisocoria, palm creases F Glucocorticoid No Enlargement [hon.ch]

People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia). [ghr.nlm.nih.gov]

Respiratory insufficiency Sensorineural hearing impairment In addition to the above-mentioned, the following signs and symptoms may be present in some affected individuals: Abnormality of visual evoked potentials Adrenocorticotropin receptor defect Anisocoria [dovemed.com]

Although severe, many of these symptoms presented in all six young adult patients are often overlooked or neglected: postural hypotension with blurred vision and syncope, hyposalivation resulting with complete edentulosis, talocrular contractures with [ncbi.nlm.nih.gov]

We present a 28 year-old woman with classical systemic features of triple A syndrome with prominent neurological dysfunctions/deficits, including distal muscular atrophy, progressive muscle weakness and wasting of both legs, sensibility dysfunction, hyperreflexia [ncbi.nlm.nih.gov]

The pattern and severity of neurologic and autonomic dysfunction in Triple-A syndrome is quite variable, including hyperreflexia, impaired visual evoked potentials, optic nerve atrophy, anisocoria (unequal pupil size), abnormal sweating, postural (orthostatic [genedx.com]

Most patients (72.8%) display neurological impairment, most frequently distal muscular weakness, hyperreflexia, nasal speech, and autonomic dysfunction. [abstracts.eurospe.org]

Neurological examination was normal except for bilateral hyperreflexia without clonus. His performance at school was reported to be satisfactory. Blood hemoglobin was 10.3 g/dL, and hematocrit was 33%. [annsaudimed.net]

sign Decreased circulating aldosterone level Decreased circulating cortisol level Dysarthria Dysautonomia Hyperpigmentation of the skin Intellectual disability Motor axonal neuropathy Orthostatic hypotension Palmoplantar hyperkeratosis (Sou rce: Triple [dovemed.com]

Physical examination was remarkable for a fissured, dry tongue; palmar and plantar keratosis; 4 upper- and lower-extremity reflexes; 3–4 beats of lower-extremity clonus; a positive Babinski sign; and ataxic responses to tandem gait and finger-to-nose [bmcophthalmol.biomedcentral.com]

The patient was negative for meningism and positive for the Babinski sign on the right side. No abnormal gait was observed. [spandidos-publications.com]

sign 31 HP:0003487 29 decreased circulating aldosterone level 31 HP:0004319 30 decreased circulating cortisol level 31 HP:0008163 31 hyperpigmentation of the skin 31 HP:0000953 32 alacrima 31 HP:0000522 33 orthostatic hypotension 31 HP:0001278 34 abnormal [malacards.org]

Neurological examinations at age 60 revealed limb muscle wasting and weakness with pyramidal tract signs, distal-dominant sensory disturbance, optic atrophy, and autonomic dysfunction. Alacrima was detected using Schirmer test. [ncbi.nlm.nih.gov]