Presentation
Presents a detailed exposition of the growing number of techniques for lamellar keratoplasty, including outcomes. Includes new sections on the latest developments in the management of ocular surface disease. [books.google.de]
Visual disturbance secondary to corneal opacification is often the presenting symptom. [en.wikipedia.org]
The present case not only exemplified characteristic features of AFA syndrome but also presented with features like notching of maxillary anteriors, elongated uvula, dystrophic nails and postaxial polydactyly of left foot; which have never been reported [e-kjgm.org]
[…] as Cutis Verticis Gyrata. ( 26955158 ) Rao A.G....Haritha M. 2016 11 Acromegaly presenting as cutis verticis gyrata. ( 26873450 ) Yerawar C....Shah N.S. 2016 12 Delayed Diagnosis of Acromegaly in an Elderly Adult that Initially Presented as Cutis Verticis [malacards.org]
The case we present is most consistent with the complete form of the syndrome. [omicsonline.org]
Entire Body System
- Asymptomatic
The authors describe a patient with the classic eyelid findings, the pathologic evaluation of the eyelid, and the presence of asymptomatic myelofibrosis. Duke University Eye Center, Durham, North Carolina, U.S.A. [journals.lww.com]
Asymptomatic cerebriform folds of the scalp. Diagnosis: primary Cutis verticis gyrata (CVG). Hautarzt. 2007;58:1058-61.,33. Larsen F, Birchall N. [scielo.br]
Abstract A 17-year-old Saudi male patient presented with progressive asymptomatic skin changes on the scalp for 4 years. [ncbi.nlm.nih.gov]
The activity of the illness is limited to the growth period, with adults becoming asymptomatic. [emedicine.medscape.com]
- Fatigue
Detailed history with regards to differential diagnosis of fatigue, weight loss, fever, headache, dizziness, and malaise 3. [docplayer.net]
Ped Derm 5:14–21, 1988 Reflex sympathetic dystrophy with chilblain-like lesions – digital papule Reiter’s syndrome – keratoderma blenorrhagicum Rook p.2765–2766, 1998; Semin Arthritis Rheum 3:253–286, 1974 Relapsing eosinophilic perimyositis – fever, fatigue [yumpu.com]
SYMPTOMATOLOGY Nonocular symptoms include chronic headaches (severe or mild) in more than two-thirds of patients, fatigue, impotence or amenorrhea, sexual hair change, or other signs of gonadal, thyroid, or adrenal insufficiency (see Chap. 17). [medtextfree.wordpress.com]
This picture can precede the appearance of constitutional symptoms (eg, fatigue, fever, weight loss) or respiratory symptoms (eg, cough, hemoptysis, chest pain, dyspnea) by several months. Problem occurs predominantly in men aged 30–70 years. [misc.medscape.com]
- Pallor
This results from expansion of tumors within the third ventricle, with secondary midbrain compression, rather than from chiasmal involvement per se.14 PALLOR OF THE OPTIC DISCS Pallor of the optic discs, although an anticipated physical sign of chiasmal [medtextfree.wordpress.com]
- Weight Gain
Two patients died in the immediate postoperative period, and 10 patients received radiotherapy with “reversal of their diencephalic syndrome” (weight gain, deposition of subcutaneous fat, normal development). [medtextfree.wordpress.com]
- Tall Stature
stature Increased body height 0000098 Showing of 9 | Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]
Gastrointestinal
- Nausea
In children, headaches usually are not thoroughly evaluated until nausea, vomiting, and behavioral changes occur, at which point an intracranial lesion should be suspected. [medtextfree.wordpress.com]
Most common toxicities are nausea, dyspepsia, peptic ulcer disease, and renal and central nervous system toxicity. References Piroxicam (Feldene) Dosing, Interactions, etc. [misc.medscape.com]
- Failure to Thrive
Clinical: Excessive salivation; failure to thrive; recurrent respiratory infections; diarrhea; insensitivity to pain; spontaneous fractures; pandysautonomia; orthostatic hypotension; gastrointestinal paresis; decreased fungiform papillae on the tongue [dentisty.org]
[…] to thrive” but with normal linear growth; none had stigmata of neurofibromatosis. [medtextfree.wordpress.com]
- Vomiting
In children, headaches usually are not thoroughly evaluated until nausea, vomiting, and behavioral changes occur, at which point an intracranial lesion should be suspected. [medtextfree.wordpress.com]
Cardiovascular
- Hypertension
Hyperactivity of the sympathetic nerve system may cause hypertension and hyperhidrosis of the palms and soles. [69] Other differentials include acromegaly, thyroid acropachy, and scleromyxedema, syphilitic periostitis, osteopetrosis, and Paget disease [emedicine.medscape.com]
Total More information Patient Medical History Cardiovascular Abnormal Electrocardiogram Aortic Stenosis Atrial fibrillation Cardiac arrest Chest pain Congestive heart failure Heart valve replacement Hypertension Murmur Heart attack Palpitations Peripheral [docplayer.net]
Reversible empty sella in idiopathic intracranial hypertension: an indicator of successful therapy? AJNR Am J Neuroradiol 1996; 17:1953. 99. Neelon FA, Goree JA, Lebovitz HE. [medtextfree.wordpress.com]
[…] mellitus Epidermolysis bul Page 244 and 245: Dentist 24:65-69, 2004; Burkitt cel Page 246 and 247: aldehyde Br Dent J 168:115-118, 199 Page 248 and 249: Job’s syndrome Kindler’s syndro Page 250 and 251: Mukamel syndrome - autosomal recess Page 252 and 253: Hypertension [yumpu.com]
Jaw & Teeth
- Macroglossia
Macroglossia. Figure 1c. Axillary acanthosis nigricans and skin tags. The patient’s clinical signs were consistent with a diagnosis of acromegaly. [hormones.gr]
27:608–612, 1962 Hughes’ syndrome – acromegaloid features and thickened oral mucosa J Med Genet 22:119–125, 1985 Lichen myxedematosus Minoxidil – pseudoacromegaly JAAD 48:962–965, 2003 Multiple endocrine neoplasia syndrome Pachydermoperiostosis – no macroglossia [yumpu.com]
Eyes
- Blurred Vision
In another series of patients with primary empty sella,100 the following features are noteworthy: all 19 were female; 12 patients initially reported headache; in 7, vision disturbances were prominent subjective symptoms (blurred vision, diplopia, micropsia [medtextfree.wordpress.com]
Skin
- Hirsutism
278 and 279: Kaposi’s sarcoma in AIDS JAAD 22: Page 280 and 281: Penicillamine Rook p.3395, 1998, Si Page 282 and 283: Schinzel-Giedion syndrome - autosom Page 284 and 285: Hairy cutaneous malformation of the Page 286 and 287: METABOLIC Acromegaly - hirsutism [yumpu.com]
- Skin Disease
NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases Acrodermatitis Cradle cap Cryotherapy Cutaneous skin tags Dry skin Dry skin -- self-care Epidermolysis bullosa Erythema multiforme Erythema nodosum Erythema toxicum Granuloma annulare [icdlist.com]
Musculoskeletal
- Arthralgia
He was managed conservatively with etoricoxib for the arthralgia and he had a good symptomatic relief. Conclusion Owing to the extreme rarity and varied presentation, the diagnosis of PCP requires a high degree of suspicion. [ncbi.nlm.nih.gov]
Two cases with pachydermoperiostosis and discussion of tamoxifen citrate treatment for arthralgia. Clin Rheumatol. 2007 Jan. 26(1):8-11. [Medline]. Jojima H, Kinoshita K, Naito M. [emedicine.medscape.com]
Successful treatment of arthralgia with tamoxifen citrate in a patient with pachydermoperiostosis. Rheumatology (Oxford). 2000;39(10):1158-9. 13. [ispub.com]
Tamoxifen has been reported to improve arthralgia, sweating of hands, and gynecomastia. [misc.medscape.com]
- Large Feet
[…] hands large hand 0001176 Long foot Disproportionately large feet large feet long feet [ more ] 0001833 Mandibular prognathia Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [rarediseases.info.nih.gov]
Neurologic
- Headache
HEADACHE Chronic headaches, mild or severe, are noted by most patients with pituitary adenomas.13 Headache symptoms are variable but may be most marked where advancing pituitary adenomas are restrained by a taut diaphragma sellae. [medtextfree.wordpress.com]
Detailed history with regards to differential diagnosis of fatigue, weight loss, fever, headache, dizziness, and malaise 3. [docplayer.net]
Clinical: Fever; chills; severe headache; muscle and joint pain; leukopenia; bradycardia. Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000. Schirire L. Macular changes in Rift Valley fever. [dentisty.org]
The patient did not report headache, vision loss, or enlargement of his facial features such as the nose, jaw or forehead. The patient’s past medical history was significant for mental retardation and bilateral hearing loss since childhood. [omicsonline.org]
She did not complain of headache or visual disturbance and there was no report of galactorrhoea. [hormones.gr]
Workup
Subsequent workup was consistent with a diagnosis of the complete form of primary hypertrophic osteoarthropathy also known as pachydermoperiostosis. [omicsonline.org]
Treatment
Treatment - Acromegaloid changes, cutis verticis gyrata and corneal leukoma Currently, there is no treatment available for acromegaloid changes, cutis verticis gyrata and corneal leukoma. [checkorphan.org]
[…] hypertrophic osteoarthropathy; Touraine Solente Gole syndromePachydermoperiostosis; Rosenthal-Kloepfer syndrome; Idiopathic hypertrophic osteoarthropathy; PDP; Primary hypertrophic osteoarthropathy; Touraine Solente Gole syndrome About the Disease Diagnosis & Treatment [rarediseases.info.nih.gov]
Treatment Treatment Options: Infants do well following intestinal surgery. Ocular surgery has not been reported. [disorders.eyes.arizona.edu]
Prognosis
Prognosis - Acromegaloid changes, cutis verticis gyrata and corneal leukoma Not supplied. [checkorphan.org]
Corneal opacities can be treated with transplantation but the prognosis is often guarded when glaucoma is present. [disorders.eyes.arizona.edu]
Therefore, PDP must be recognized early because of the social stigmata linked to its cutaneous manifestations, and its uniformly good prognosis if treated. [misc.medscape.com]
Etiology
Etiology for AFA syndrome is unknown. No chromosomal abnormality or genetic locus has been described in this syndrome. [e-kjgm.org]
Roussy-Cornil Syndrome 1111 General: Etiology unknown; sporadic hypertrophic neuropathy; onset in second to third decade of life or later; progressive; occasionally, remissions and exacerbations. Ocular: Sluggish pupils; disturbed vision. [dentisty.org]
The association with malignancy is relatively common in adults. [75, 76] Digital clubbing and hypertrophic osteoarthropathy are linked, and many authors postulate a single pathological entity, regardless of the etiology, which evolves in a centripetal [emedicine.medscape.com]
The incidence reported is highly variable and a number of etiologic factors have ... Leucoma - definition of leucoma by The Free Dictionary ; Leucoma and corneal neovascularization on the left eye corneal surface were observed (Figure 2). [yqwmcdqr.cf]
Paraneoplastic growth factors [30] such as prostaglandin E; other cytokines; neurologic, hormonal, [31] and immune mechanisms [23] ; and vascular thrombi caused by platelets and antiphospholipid antibodies [32] have all been proposed as possible etiologies [misc.medscape.com]
Epidemiology
The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.de]
Insulin is an important growth factor for colonic mucosal cells and can stimulate colonic tumour cell proliferation. 37-39 Epidemiological studies have shown an association between colorectal cancer and hyperinsulinaemia. 40,41 Several models have been [hormones.gr]
Rift Valley fever ecology and the epidemiology of disease emergence. Ann NY Acad Sci 1994; 740: 169-180. Yoser SL, et al. Systemic viral infections and their retinal and choroidal manifestations. Surv Ophthalmol 1993; 37:313-352. [dentisty.org]
[…] the SLCO2A1 gene in Chinese patients have also been reported. [47, 48] Genetic analysis of affected individuals and unaffected family members in Korea revealed a novel heterozygous mutation in the SLCO2A1 gene but no HPGD mutations. [49] References Epidemiology [misc.medscape.com]
Pathophysiology
From a pathophysiological viewpoint, these patients differ from our patient. [hormones.gr]
References Pathophysiology Primary hypertrophic osteoarthropathy has been linked to mutations in two genes, 15-hydroxyprostaglandin dehydrogenase ( HPDG ) and solute carrier organic anion transporter family, member 2A1 ( SLCO2A1 ). [misc.medscape.com]
Prevention
Prevention - Acromegaloid changes, cutis verticis gyrata and corneal leukoma Not supplied. Diagnosis - Acromegaloid changes, cutis verticis gyrata and corneal leukoma Not supplied. [checkorphan.org]
Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates [icdlist.com]
Patient information Corneal cross-linking ; Corneal cross-linking Corneal cross-linking (CXL) is a treatment which prevents keratoconus getting worse. [yqwmcdqr.cf]
Author Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public [emedicine.medscape.com]
Infliximab is a monoclonal antibody that binds to TNF preventing its biologic action. A case report has been defined showing improvement of hypertrophic osteoarthropathy symptoms with infliximab. [misc.medscape.com]