To report a patient who presented with bluish scleral discoloration, keratoconus, and progressive high myopia. [ncbi.nlm.nih.gov]

When the first two major criteria are present in the individual at birth or during early childhood or when the first and third major criteria are present in adolescents and adults, mcEDS is suggested. [news-medical.net]

A first description of PRDM5 expression in the human eye is also presented in chapter 4. In chapter 5, a potential role for PRDM5 in retinal vasculogenesis is suggested. [ethos.bl.uk]

• Weakness

  There may be muscle weakness or low tone (hypotonia) perhaps manifesting in childhood as a delay in development of motor skills (e.g., holding head up, crawling, walking). [hypermobility.org]

  Muscle hypotonia and weakness in PWS and EDS may certainly account for reducedbalance capacity since they directly affect joint stability. [docslide.net]

  The lungs may be abnormally divided into small extra sections (lung lobulation) and/or the walls of the voice box (larynx) may be weak and easily collapsible, potentially resulting in swallowing and breathing difficulties (e.g., temporary cessation of [rarediseases.org]

  It also causes thin sclerae, slender weak tendons, thin heart valves and dilated aortic root. [patient.info]

• Surgical Procedure

  Penetrating keratoplasty a few months after epikeratoplasty can be performed for cases of extreme corneal thinning, and additional surgical procedures for extreme corneal thinning include corneo-scleral grafting. [xpertdox.com]

  Patients rarely walk, even after multiple surgical procedures and they have very short stature. Early death can occur from respiratory infections predisposed to by reduction in vital capacity associated with severe kyphoscoliosis. [patient.info]

  Also, a surgical procedure may be recommended for relief of dry eyes. Nutrition/Dietetic concerns There is considerable debate as to the role of diet in autoimmune disease. [encyclopedia.com]

  Kanellopoulos AJ, Pe LH: An alternative surgical procedure for the management of keratoglobus. Cornea. 2005, 24: 1024-6. 10.1097/01.ico.0000157411.31566.a7. PubMed CrossRef 34. [springermedizin.de]

  Treatment options for multiple endocrine neoplasia Syndrome Characteristic Features Medical Treament Surgical Procedures MEN1 Parathyroid tumors Treat hypercalcemia with hydration, loop diuretics, and bisphosphonates Subtotal or total parathyroidectomy [dermatologyadvisor.com]

• Asymptomatic

  PHPT in MEN2A tends to be milder and many patients are asymptomatic. [dermatologyadvisor.com]

  […] classic zinc-finger protein that is likely involved in synthesis and/or organization of corneal collagens. 2, 3 In this report, we describe the phenotype/genotype correlation for blue sclera with or without BCS in all 3 children of a consanguineous, asymptomatic [jamanetwork.com]

  Many patients, however, remain asymptomatic despite significant falls in blood pressure ( 60 ). [care.diabetesjournals.org]

  There is a clinical spectrum ranging from asymptomatic joint hypermobility, through “non-syndromic” hypermobility with secondary manifestations, to hEDS. [ehlers-danlos.com]

  […] syphilitic meningitis 晚期梅毒性腦膜炎 A5214 Late syphilitic encephalitis 晚期梅毒性腦炎 A5215 Late syphilitic neuropathy 晚期梅毒神經病變 A5216 Charcot's arthropathy (tabetic) Charcot(氏)關節病變 A5217 General paresis 全身性輕癱症 A5219 Other symptomatic neurosyphilis 其他症狀性神經梅毒 A522 Asymptomatic [csh.org.tw]

• Easy Bruising

  […] hypermobile EDS (hEDS) loose joints easy bruising muscle pain muscle fatigue chronic degenerative joint disease premature osteoarthritis chronic pain heart valve problems Symptoms of vascular EDS fragile blood vessels thin skin transparent skin thin [healthline.com]

  bruising, abnormality of hair pigmentation, osteoporosis, sensorineural hearing impairment, visual loss, thinning of cornea and corneal degeneration. [xpertdox.com]

  The affected sisters had high myopia, blue sclerae, keratoconus, keratoglobus, soft skin with easy bruising, hypermobility of the small joints, femoral epiphyseal changes, abnormal gait, hypercompliance of tympanic membranes, and mixed conductive and [omim.org]

  Skin involvement: skin hyperextensibility, atrophic scars, thin skin, easy bruising; and 3. Joint hypermobility (generalized or restricted to small joints). There are four minor criteria. [raredr.com]

• Nausea

  […] eruption of teeth Supernumerary teeth Reproductive system Hypogonadism in 25% Juvenile-appearing genital organs Amenorrhoea (lack of menstruation) Sterility Endocrine system Parathyroid adenoma Disturbed thyroid function Gastrointestinal system Chronic nausea [dermnetnz.org]

  […] like grit or sand due to reduced lacrimal secretion) eye infections, “red eye”, ulcers on cornea dry skin Raynaud's phenomenon (restriction of blood vessels in fingers and toes in response to cold or stress) joint pain gastrointestinal problems such as nausea [encyclopedia.com]

  These sorrel formulations may cause nausea or vomiting when taken with the prescription drugs metronidazole (Flagyl®) or disulfiram (Antabuse®). Avoid if pregnant or breastfeeding. [livingnaturally.com]

  Major clinical features of this disorder are early satiety, anorexia, nausea, vomiting, epigastric discomfort, and bloating. Episodes of nausea or vomiting may last days to months or occur in cycles ( 125 ). [care.diabetesjournals.org]

• Vomiting

  […] teeth Supernumerary teeth Reproductive system Hypogonadism in 25% Juvenile-appearing genital organs Amenorrhoea (lack of menstruation) Sterility Endocrine system Parathyroid adenoma Disturbed thyroid function Gastrointestinal system Chronic nausea and vomiting [dermnetnz.org]

  These sorrel formulations may cause nausea or vomiting when taken with the prescription drugs metronidazole (Flagyl®) or disulfiram (Antabuse®). Avoid if pregnant or breastfeeding. [livingnaturally.com]

  Major clinical features of this disorder are early satiety, anorexia, nausea, vomiting, epigastric discomfort, and bloating. Episodes of nausea or vomiting may last days to months or occur in cycles ( 125 ). [care.diabetesjournals.org]

  […] infection, because of its association with gastric mucosa–associated lymphoid tissue lymphomas. [37] Patients with Sjögren syndrome are at increased risk for delayed gastric emptying, which can cause early satiety, upper abdominal discomfort, nausea, and vomiting [emedicine.medscape.com]

• Hypertension

  Spleen enlargement – as the blood from spleen normally drains in the liver, a blockage in the liver leads to portal hypertension. This causes the spleen to enlarge in later stages. [news-medical.net]

  Further, FNA biopsy may precipitate a hypertensive crisis, hemorraghic event, or death. [dermatologyadvisor.com]

  Pulmonary arterial hypertension: a rare complication of primary Sjögren syndrome: report of 9 new cases and review of the literature. Medicine (Baltimore). 2007 Sep. 86(5):299-315. [Medline]. [emedicine.medscape.com]

  Research in Developmental Disabilities 32 (2011) 111711211118All participants were free from conditions associated with impaired balance, vision loss/alteration, vestibularimpairments, neuropathy, as detected by the clinical examination, intracranial hypertension [docslide.net]

  In one study of type 1 diabetic individuals, hypertension along with LDL and HDL cholesterol concentrations were found to be independent correlates of CAN ( 97 ). [care.diabetesjournals.org]

• Hypotension

  Frequently, there are fluctuations in the degree of orthostatic hypotension. [care.diabetesjournals.org]

• Dental Caries

  Mouth dryness may produce a deep red tongue, as shown here, and dental caries are common. Look for a decreased sublingual salivary pool. The tongue may stick to the tongue depressor. [emedicine.medscape.com]

• Hearing Impairment

  Mitral valve prolapse ; Myalgia ; Neonatal hypotonia ; Osteoporosis ; Pes planus ; Pulmonic stenosis ; Retinal detachment ; Scoliosis ; Sensorineural hearing impairment ; Soft skin ; Visual loss Associated Genes PRDM5 (Withdrawn symbols: PFM2 ), ZNF469 [mousephenotype.org]

  Zeeshan Mahmood, who's had impaired sight and hearing since he was a teen, is using accessible technology to learn and to work Visually and hearing-impaired student Zeeshan Mahmood had electronic devices that enable him to hear surgically inserted when [theglobeandmail.com]

  Hearing impairment with mixed sensorineural/conductive defects is common. Genetics This autosomal recessive disorder results from homozygous mutations in PRDM5 (4q27). [disorders.eyes.arizona.edu]

  […] loss, easy bruising, abnormality of hair pigmentation, osteoporosis, sensorineural hearing impairment, visual loss, thinning of cornea and corneal degeneration. [xpertdox.com]

• Excessive Wrinkled Skin

  wrinkled skin of palms and soles). [xpertdox.com]

• Blister

  Skin Photosensitivity : sunburn-like redness, swelling and blisters on cheeks and face; may extend to involve buttocks and extremities. [dermnetnz.org]

• Blue Sclera

  Both eyes had keratoglobus and blue sclera and had grossly normal intraocular pressure by digital palpation. [jamanetwork.com]

  […] fragility keratoglobus, blue sclerae AND joint hypermobility 88,434,629(+) C/A/T coding_sequence_variant, missense_variant rs1048192 likely-benign, Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 88,440,239(+) G/A 3_prime_UTR_variant [genecards.org]

  Badtke (1941) reported 2 sisters, born of consanguineous parents, with blue sclerae and keratoconus from south Tyrol. [omim.org]

  Name Brittle Cornea Syndrome 1 Synonyms CORNEAL FRAGILITY, KERATOGLOBUS, BLUE SCLERAE, JOINT HYPEREXTENSIBILITY, DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE, EHLERS-DANLOS SYNDROME, TYPE VIB, FORMERLY; EDS6B, FORMERLY, FRAGILITAS OCULI WITH JOINT HYPEREXTENSIBILITY [mousephenotype.org]

• Blurred Vision

  Clinical presentation of pituitary tumors includes visual field defects, blurred vision, and headaches. The most common pituitary tumor, a prolactinoma, may cause galactorrhea, amenorrhea, infertility in women, and hypogonadism in men. [dermatologyadvisor.com]

  Introduction Keratoconus (KC, OMIM 14830) is bilateral progressive thinning and ectasia of the cornea that results in blurred vision from irregular astigmatism. [nature.com]

Biochemical workup for MEN2 includes basal serum calcitonin and carcinoembryonic antigen (CEA) levels, both of which would be elevated in MTC. [dermatologyadvisor.com]

A complete workup for erectile dysfunction in men should include history (medical and sexual); psychological evaluation; hormone levels; measurement of nocturnal penile tumescence; tests to assess penile, pelvic, and spinal nerve function; cardiovascular [care.diabetesjournals.org]

Treatment Treatment Options: Treatment beyond corneal repair is limited. References References Walker LC, Overstreet MA, Willing MC, Marini JC, Cabral WA, Pals G, Bristow J, Atsawasuwan P, Yamauchi M, Yeowell HN. [disorders.eyes.arizona.edu]

The medicines will usually be tested against another treatment called a control. This will either be a dummy treatment (a placebo) or a standard treatment already in use. [nhs.uk]

We aim to highlight the importance of diagnosis and treatment of patients suffering from Brittle cornea syndrome. Timely diagnosis and early provision of protective glasses seem to be the most important step in treating BCS. [ncbi.nlm.nih.gov]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Diagnosis and Prognosis: Diagnosis generally requires a multidisciplinary team of specialists. [disorders.eyes.arizona.edu]

The BCS is, therefore, an entity distinct from the kyphoscoliotic type of EDS, which has a much poorer prognosis. Copyright 2003 Wiley-Liss, Inc. [ncbi.nlm.nih.gov]

The BCS is, therefore, an entity distinct from the kyphoscoliotic type of EDS, which has a much poorer prognosis. [zora.uzh.ch]

Prognosis for patients with Alagille syndrome The outlook or prognosis for people with Alagille syndrome depends on the severity of liver damage and associated problems. [news-medical.net]

Prognosis The earlier a patient is diagnosed, the better his/her chances of alleviating symptoms and avoiding complications. The symptoms may remain mild, worsen and plateau, or become debilitating. [encyclopedia.com]

Lyons, both globally recognized leaders, provide authoritative coverage of all the pediatric ophthalmic conditions you’re likely to encounter in practice, including the latest clinical advances in etiology, diagnosis, and medical and surgical management [books.google.com]

The etiology of keratoconus is complex and not yet understood, but rare ZNF469 variants have recently been associated with disease. [ncbi.nlm.nih.gov]

Etiology Pathophysiology MEN1 and MEN2 are hereditary cancer syndromes. Germline mutations in the MEN1 tumor suppressor gene located on chromosome 11q13 cause the MEN1 syndrome. MEN1 encodes for the protein menin. [dermatologyadvisor.com]

Long-term follow-up studies are needed to distinguish the exact roles of cardiovascular risk factors, nephropathy, and CAN in the etiology of cardiovascular disease. [care.diabetesjournals.org]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

Epidemiology Alagile syndrome occurs in about one in every 70,000 births and is seen at equal rates in both males and females. The symptoms appear before the baby completes two years. [news-medical.net]

Epidemiology Incidence is approximately 1/15,000-1/20,000 live births but this may be underestimated, as milder forms can evade diagnosis [ 7 ]. It is the leading cause of lethal short-limbed dwarfism and skeletal dysplasia. [patient.info]

EPIDEMIOLOGY OF DAN The reported prevalence of DAN varies, depending on whether studies have been carried out in the community, clinic, or tertiary referral center. [care.diabetesjournals.org]

Furthermore we plan (1) to identify additional BCS causing genes in those families negative for ZNF469 and PRDM5 mutations, (2) to characterize its mutation(s), and (3) to gain insight into physiology and pathophysiology of this syndrome. [research-projects.uzh.ch]

However, in the past 10 years discoveries of further (mainly recessive) causative genes have lent support to a predominantly collagen-related pathophysiology [ 1 ]. [patient.info]

Etiology Pathophysiology MEN1 and MEN2 are hereditary cancer syndromes. Germline mutations in the MEN1 tumor suppressor gene located on chromosome 11q13 cause the MEN1 syndrome. MEN1 encodes for the protein menin. [dermatologyadvisor.com]

↵ Horowitz M, Edelbroek M, Fraser R, Maddox A, Wishart J: Disordered gastric motor function in diabetes mellitus: recent insights into prevalence, pathophysiology, clinical relevance and treatment. [care.diabetesjournals.org]

Measures to prevent corneal rupture, such as wearing special protective glasses, may help delay vision loss. [rarediseases.info.nih.gov]

In additional, there are several steps you can take to prevent injury. [healthline.com]

Mainstays of management include the prevention of ocular rupture by provision of protective polycarbonate spectacles, careful monitoring of visual and auditory function, and assessment for skeletal complications such as developmental dysplasia of the [ncbi.nlm.nih.gov]

Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections. [livingnaturally.com]

CONCLUSION • PREVENTION IS ALWAYS BETTER THAN CURE !! [de.slideshare.net]