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EEC syndrome Life expectancy

Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

The prognosis for most individuals with EEC syndrome is very good. Life expectancy ranges from slightly reduced to normal. The most life-threatening complications come from sweating problems. Individuals with an impaired ability to sweat are at risk to overheat, which can lead to seizures, coma, and death EEC syndrome can be divided into two different types defined by the underlying cause. More than 90% of individuals have EEC syndrome type 3 , caused by mutations in the TP63 gene. The of individuals with EEC syndrome are thought to have a mutation in a region on chromosome 7, known as EEC syndrome type 1 EEC syndrome. There are three different forms of EEC: EEC type 1, 2 and 3. Only one family has been identified with EEC 1 and 2. The most common type is EEC 3 In this document, we will refer to the latter as EEC. Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome (EEC) is a Rare Genetic Condition Characterized b

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The symptoms of EEC syndrome are highly variable, even among members of the same family. The variability is due, in part, to different mutations of the TP63 gene (e.g., certain mutations are more likely to be associated with certain symptoms). Affected individuals or their parents should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis The life expectancy may range from very slightly decreased to normal. However, in people with syndromic form of ectrodactyly, a number of health risks and problems may occur such as dealing with the individual's sweating problems. However, the prognosis is still very good, with a life expectancy of slightly reduced to normal Prognosis Life expectancy is very low. Most reported patients survived only a few hours or months. Cardiopulmonary complications were the main cause of death Sir.—I have two comments regarding the December 1985 issue.. It is not clear from the commentary by Hecht 1 whether the family that he had initially counseled relative to the EEC [ectrodactyly-ectodermal dysplasia-clefting] syndrome had, in their second child, the problem of ectrodactyly. The commentary states that the second child had a cleft lip and palate, but it does not say (at least as.

EEC syndrome Genetic and Rare Diseases Information

These are symptoms of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC). For parents who know there is a family history and their baby is at risk, there are tests which can be done. These tests can be completed in utero depending on the syndrome and if a genetic test has been developed Hypohidrotic ectodermal dysplasia (anhidrotic ectodermal dysplasia) does not affect life expectancy, intelligence and your ability to lead a normal life

A case of OEIS complex was first described and published by Littre in 1709.[1] Carey et al firstly used the term OEIS complex in 1978.[2] OEIS complex is a severe form of extrophy epispadias complex [EEC]. It has an incidence of 1 in 200000 to 1 in 400000 pregnancies [2,3] There are at least three other syndromes caused by mutations in the TP63 gene including limb-mammary syndrome, ADULT syndrome, and ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome. In addition, TP63 mutations have also been reported as the cause of nonsyndromic split hand/foot malformation

EEC syndrome (ectodermal dysplasia, ectrodactyly, and clefting) 3 ; AEC syndrome (ankyloblepharon, ectodermal dysplasia, and cleft lip/palate) Rapp-Hodgkin syndrome ; Classification. There are four primary ectodermal dysplasia (ED) defects: life expectancy and can lead a full and productive lives.. Diagnosis is made using criteria developed by the Polycythemia Vera Study Group; major criteria include elevated red blood cell mass, normal oxygen saturation, and palpable splenomegaly. Untreated.. The association of ectrodactyly, atypical anhidrotic ectodermal dysplasia, and cleft lip and cleft palate is described in a 3½-year-old girl. It is proposed that this combination of defects represents a specific syndrome of congenital defects, named the EEC syndrome according to its main manifestations AEC (Hay-Wells) syndrome, Rapp-Hodgkin syndrome, EEC syndrome, limb-mammary syndrome, split hand-split foot malformation syndrome, and acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome are all caused by mutations in the TP63 gene. [24, 25] p63 is a transcription factor that regulates the activity of the tumor suppressor gene TP53 EEC syndrome: an autosomal-dominant syndrome involving both ectodermal and mesodermal tissues, with ectodermal dysplasia associated with hypopigmentation of skin and hair, scanty hair and eyebrows, absence of lashes, nail dystrophy, small or missing teeth, missing digits, and cleft lip and palate. Also called ectrodactyly-ectodermal.

Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate - NORD

Ectrodactyly Genetics, Pictures, Prognosis and Surgical

Lacrimo-auriculo-dento-digital (LADD) syndrome is an extremely rare disorder which may occur sporadically or inheritably as an autosomal dominant condition. It is characterized by defects in the lacrimal apparatus, ear problems, and dental and digital abnormalities. However, specific symptoms vary greatly among the cases with a high degree of overlap with other similar genetic disorders Edwards Syndrome (Trisomy 18 (Edwards Syndrome)) EEC (E. coli: Escherichia coli 0157:H7, E. coli 0157:H7) EEG (Electroencephalography (EEG)) Eel Food Poisoning (Wilderness: Ciguatera Toxin) EGD (Endoscopy in Crohn Disease) EHEC (E. coli: Escherichia coli 0157:H7, E. coli 0157:H7) Ehlers-Danlos Syndrome Life Expectancy Overview. CHARGE syndrome is a recognizable genetic syndrome with known pattern of features. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. Babies with CHARGE syndrome are often born with life-threatening birth defects. They spend many months in the hospital and. Background—The life expectancy of patients undergoing a Fontan procedure is unknown. Methods and Results—Follow-up of all 1006 survivors of the 1089 patients who underwent a Fontan procedure in Australia and New Zealand was obtained from a binational population-based registry including all pediatric and adult cardiac centers Intelligence and life expectancy are normal. Prenatally, limb shortening and typical facies usually become apparent only after 22 weeks of gestation. (EEC syndrome), which is autosomal dominant, involves the four extremities with more severe deformities of the hands; the spectrum of ectodermal defects is wide, including dry skin, sparse.

The other cases correspond to EEC syndrome type 1, which shows associated clinical features such as malformedauricles and middle and inner ear malformations, and was mapped to 7q21. EEC type 2 does not exist anymore. EEC syndrome is an autosomal dominant disorder with incomplete penetrance (between 93 and 98%) and variable expression Estimated life expectancy of at least 3 months, in the judgment of the Investigator. Disease-free of active second/secondary or prior malignancies for ≥2 years with the exception of currently treated basal cell, squamous cell carcinoma of the skin, or carcinoma in-situ of the cervix or breast

Acrocardiofacial syndrome Genetic and Rare Diseases

  1. Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. However, there is no evidence of mental retardation or reduced life expectancy associated with FFU syndrome. FIGURE 2-88. Second-trimester fetus with unilateral lower limb abnormality. (A) Two-dimensional image shows the iliac crest (arrow)
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  3. Intelligence and life expectancy are normal. Short limbs, vertebral abnormalities. Nephritic syndrome ∗: AR: 1 in 8000 in Finland: Renal failure requiring transplantation within the first 4 years of life. Prenatally may present with transient hydrops. Noonan syndrome: AD: 1 in 2000: Life expectancy is probably normal in those without severe.
  4. Targeting Aging And Extending Healthy Life Expectancy Worth Trillions To Global Economy - July 9, 2021; EXPOSED: The Drug Industry's 'Hidden Web Of Policy Influence' In The British Parliament - July 2, 2021; New Video Interview With Dr. Matthias Rath - June 25, 202

In the majority of patients with hereditary PPK, life expectancy is not impaired. Nevertheless, severely affected individuals may be faced with a lifelong burden, both physically and psychologically. EEC syndrome e) Epidermolysis bullosa. PPK and keratitis are features of: a) Mal de Meleda b) Tyrosinemia type II. anorexia-cachexia syndrome (CACS) suggest cannabinoids' potential at fixed doses of 2.5 mg of THC twice to three times daily; 19-21 how-ever, megestrol acetate palliated anorexia better than THC.22 We in-vestigated the effects of CE and THC on appetite and quality of life (QOL) in patients with CACS. PATIENTS AND METHOD Types of endometrial cancer. Endometrial cancer (also called endometrial carcinoma) starts in the cells of the inner lining of the uterus (the endometrium). This is the most common type of cancer in the uterus. Endometrial carcinomas can be divided into different types based on how the cells look under the microscope 2) Classic: muscle weakness/wasting, myotonia, cataracts, cardiac conduction issues, adults may become physically disabled and have shortened lifespan. 3) Congenital: hypotonia and generalized weakness at birth, often with respiratory insufficiency and early death, MR is common. Testing: CTG triplet repeat Purpose To compare the effects of cannabis extract (CE), delta-9-tetrahydrocannabinol (THC), and placebo (PL) on appetite and quality of life (QOL) in patients with cancer-related anorexia-cachexia syndrome (CACS). Patients and Methods Adult patients with advanced cancer, CACS, weight loss (≥ 5% over 6 months), and Eastern Cooperative Oncology Group (ECOG) performance status (PS) ≤ 2 were.

What Is Cardiomyopathy in Adults? Cardiomyopathy refers to diseases of the heart muscle. These diseases have many causes, signs and symptoms as well as treatments. In most cases, cardiomyopathy causes the heart muscle to become enlarged, thick or rigid. In rare instances, diseased heart muscle tissue is replaced with scar tissue Allelic disorders include Acro-dermal-ungual-lacrimal-tooth (ADULT) syndrome, ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome, limb-mammary syndrome and split hand/foot malformation type 4. AEC is generally distinguished from these other disorders by clinical features (particularly scalp erosions) as well as the location of the TP63.

The diagnosis of Sjögren's syndrome requires demonstration of an autoimmune disease that is adversely affecting the function of the glands that produce tears and saliva. Dry eyes and dry mouth are the most common symptoms. Assessments by a rheumatologist, ophthalmologist, and a dentist or oral medicine specialist are usually needed to search. Essential thrombocythemia (ET) is an acquired myeloproliferative disorder (MPD) characterized by a sustained elevation of platelet number with a tendency for thrombosis and hemorrhage. The prevalence in the general population is approximately 30/100,000. The median age at diagnosis is 65 to 70 years, but the disease may occur at any age. The female to male ratio is about 2:1 Recovery from aortic valve replacement varies based on a patient's overall health. It can also depend on whether the patient undergoes transcatheter aortic valve implantation (TAVI) or open heart surgery.. Your doctor can provide information on how recovery differs for TAVI and open heart surgery Edwards' syndrome, also known as trisomy 18, is a rare but serious condition. Edwards' syndrome affects how long a baby may survive. Sadly, most babies with Edwards' syndrome will die before or shortly after being born. A small number (about 13 in 100) babies born alive with Edwards' syndrome will live past their 1st birthday 80% of children born with Down Syndrome are born to woman under the age of 35 (National Down Syndrome Society, 2012) Life expectancy for people with Down Syndrome has increased greatly recently, from 25 in 1983 to 60 in 2012 (National Down Syndrome Society, 2012) Down syndrome is hereditary in about 1% of cases (National Down Syndrome Society.

Two Problems: Diagnosing the EEC/EECUT Syndrome and

The life expectancy of these affected individuals depends on the severity of signs and symptoms.People with Hartsfield syndrome often have other brain abnormalities associated with holoprosencephaly. Affected individuals may have a malfunctioning pituitary, which is a gland located at the base of the brain that produces several hormones Stenosis (narrowing or obstruction) of the aortic valve makes the left ventricle pump harder to get blood past the blockage. Insufficiency (also called regurgitation) is when blood that's just been pumped through the valve leaks backwards into the pumping chamber between heartbeats Lewy body dementia (LBD) or dementia with Lewy bodies (DLB) is associated with protein deposits in the brain that cause disruptions in the normal functioning of the brain. Diagnosing the disease is extremely tough because its symptoms may resemble other brain diseases. There are seven stages of Lewy body dementia Overview of WPW Syndrome. First described in 1930 by Louis Wolff, John Parkinson and Paul Dudley White; Refers to the presence of a congenital accessory pathway and episodes of tachyarrhythmias; Incidence is 0.1 - 3.0 per 100 The loss in life-expectancy runs between 2 and 8 months for those between 60 and 90 years-old. For 67-year-old men like me getting Covid, their loss of life expectancy is on average around 3 months

EDS 522 Disability Presentation - EEC Syndrome - YouTube

treatment may extend life expectancy to more than 10 years. Treatment includes phlebotomy with (EEC) have been proposed as diagnostic tests for PV. Budd-Chiari syndrome Erythromelalgia. John Porter, Donald K. Bowden, Marina Economou, Jacques Troncy, Arnold Ganser, Dany Habr, Nicolas Martin, Adam Gater, Diana Rofail, Linda Abetz-Webb, Helen Lau, Maria Domenica Cappellini, Health-Related Quality of Life, Treatment Satisfaction, Adherence and Persistence in β-Thalassemia and Myelodysplastic Syndrome Patients with Iron Overload Receiving Deferasirox: Results from the EPIC.

The epidermal nevus syndrome is a disease complex of epidermal nevi and developmental abnormalities of different organ systems. The authors present a case of congenital systematized epidermal nevus syndrome in a patient with skin lesions covering approximately 80% of the total body surface area Severe aortic stenosis can be life-threatening because it prevents blood from flowing easily throughout your body. Your heart may need to work harder than it should to pump blood throughout your body and it may not do so effectively. Learn about the risks and recognizing the symptoms of severe aortic stenosis percent of the time Down syndrome is caused by trisomy 21 the child has three from RE at Memorial H S, Mcalle

Diagnosing Ectodermal Dysplasia Syndromes in Babies

Primary secretory otitis media (PSOM), also known as glue ear, is a condition observed primarily in the Cavalier King Charles spaniel (CKCS) dog breed, but also reported in the dachshund, boxer and shih tzu. Incidence in clinically normal CKCS may be as high as 54% (EEC).14 Patients who had a dementia syndrome accord-ing to the Diagnostic and Statistical Manual of Mental Disorders IV Text Revision,15 and participants with an MMSE score lower than 26 were excluded.16 Participants with extreme weakness of the hands and dysarthria were excluded because they were unable to perform the tests Oral manifestations of HIV infection are sometimes the first sign of the disease and often indicate its progression to acquired immune deficiency syndrome (AIDS), thus it is important for health professionals (physicians and dentist) to possess adequate knowledge of these lesions. Improvements in an Life expectancy is not affected in people with FXS because there are usually no life-threatening health concerns associated with the condition. ECC Motorsports and drivers, Adam Andretti and A.J. Henriksen, are raising Fragile X awareness by including the NFXF's logo on their cars in every race Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome is a rare monogenic disease with autosomal dominant inheritance caused by mutations in the TP63 gene, leading to progressive corneal keratinocyte loss, limbal stem cell deficiency (LSCD), and eventually blindness. Currently, there is no treat

Ectodermal dysplasia - Live A Happier and Healthier Lif

Impact of JVS-100 delivery on quality of life measure at 4 month follow-up [ Time Frame: 4 Months ] To investigate the impact of single doses of JVS-100 (either 30 or 45 mg) delivered retrograde via the coronary sinus through the Oscor Venos Occlusion Balloon catheter on quality of life measure compared to placebo at 4 months post dosing The frequent association of ARM with common chromosomal anomalies is well known (e.g. Down syndrome, trisomy 18, 13q-, cat-eye syndrome (CEM), or genetic syndromes such as Currarino syndrome, FG syndrome, VATER association and others [14, 17, 22, 35, 39, 42, 48, 75, 80, 82, 85, 95, 98, 99, 111, 115, 123].Teratogenic effects of certain agents such as thalidomide, oestrogen and ethanol intake.

Ectodermal dysplasia - Wikipedi

Primary adrenal cortical carcinoma is a rare but highly malignant tumor with generally poor prognosis. Life expectancy of afflicted patients depends on early diagnosis and treatment. An early diagnosis of functioning adrenocortical carcinomas depends on the physician's ability to recognize the clinical manifestations of excessive steroid-hormone production by the tumor Down syndrome (DS) is associated with a trisomy in chromosome 21. The prevalence of DS is one out of 700-1000 live births [7, 8]. Fortunately, life expectancy of DS has increased from ≈ 9 years of age in 1929 to ≈ 55 years of age nowadays [7, 8]

Prognosis The prognosis for LMS patients is good and life expectancy is normal. Last updated: 10/11/2006 [rarediseases.info.nih.gov]. Prognosis The prognosis for LMS patients is good and life expectancy is normal. The documents contained in this web site are presented for information purposes only. Prognosis - Limb-mammary syndrome Not supplied. Treatment - Limb-mammary syndrome Not supplied Abstract Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome is a rare monogenic disease with autosomal dominant inheritance caused by mutations in the TP63 gene, leading to progressive corne.. Down syndrome Antonella Tramutola1 quality of life and the longer life expectancy are significant achievements of both social and medical care, the overall increase of mean age of DS individuals is associated with Directives (86/609/EEC). Experimental protocol was ap EEC syndrome + Ehlers-Danlos syndrome + electroclinical syndrome + Elliott Ludman Teebi Syndrome . Ellis Yale Winter Syndrome . Ellis-Van Creveld syndrome + Elsahy-Waters syndrome . Emanuel Syndrome . empty sella syndrome + encephalopathy due to defective mitochondrial and peroxisomal fission 1

Life expectancy of the UK Government? It seems to me that while many British are relieved to be out of the EU, that he present Government may well have the terminal disease of Brexit. They currently have a Parliamentary majority of 80, so they can afford many rebels before they lose Parliament, but the Tories are hard on losers Medscape.com will be closing all its main discussion boards on January 31, 2016. After this date, you will longer be able to access the boards for viewing and commenting How common is Down syndrome? The frequency of Down syndrome is approximately 1 in every 800 births, the rate is increased in older mothers. It is one of the most common chromosomal abnormalities in live-born children. The improved quality of medical care and educational resources have allowed for a more productive life and a longer life expectancy Pre-eclampsia is a disorder of pregnancy characterized by the onset of high blood pressure and often a significant amount of protein in the urine. When it arises, the condition begins after 20 weeks of pregnancy. In severe cases of the disease there may be red blood cell breakdown, a low blood platelet count, impaired liver function, kidney dysfunction, swelling, shortness of breath due to. EEC syndrome (ectrodactily-ectodermal dysplasia and cleft lip/palate syndrome, OMIM#604292) is an autosomal dominant rare disorder characterized by abnormal development of tissues that originate.

A potential decline in life expectancy in the United States in the 21st century. 352:1138-45. 2007. Ford ES, Ajani UA, Croft JB, et al. Explaining the decrease in U.S. deaths from coronary disease. Ectrodactyly‐Ectodermal dysplasia‐Clefting (EEC) syndrome is a rare autosomal dominant disease caused by heterozygous mutations in the p63 gene and characterized by limb defects, orofacial clefting, ectodermal dysplasia, and ocular defects. Patients develop progressive total bilateral limbal stem cell deficiency, which eventually results in corneal blindness Trp53 −/− knockout mice have an average life expectancy of such as cardiovascular disease and the metabolic syndrome for which there are strong (Council Directive 86/609/EEC of 24. Objective To determine changes in the incidence of dementia between 1988 and 2015. Methods This analysis was performed in aggregated data from individuals >65 years of age in 7 population-based cohort studies in the United States and Europe from the Alzheimer Cohort Consortium. First, we calculated age- and sex-specific incidence rates for all-cause dementia, and then defined nonoverlapping 5. Down syndrome (DS) individuals are characterized by the life expectancy of peo-ple with DS has largely improved [3, 4]. The triplication of (86/609/EEC). Experimental protocol was approved by the Italian Ministry of Health (#1183/2016-PR). All efforts were made to mini

What Is DiGeorge Syndrome Life Expectancy June 25, 2021. What Is DiGeorge Syndrome Life Expectancy? What Are the Five Stages of Puberty June 24, 2021. (EEC) SYNDROME; SPLIT HAND-SPLIT FOOT-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME :-The nails are dystrophic in about four-fifths of individuals with transverse ridging, pitting, and. Learn about heart disease symptoms, risk factors and prevention, as well as information on heart attack, heart failure, and heart health Marfan syndrome can present with severe cardiac problems. Marfan syndrome can present in a very similar way to Homocystinuria and Ehler Danlos syndrome. Young people can present with life-threatening cardiac problems. Q5 Medical Discussion. A Where these patients might be seen; A & E, General practice, cardiology, rheumatology, physiotherapy

European Economic Community (EEC) - wanted to join but Charles de Gaulle said Non Prime Minister 1964 - 1970 Morality rates declined and life expectancy improved Universal and available to all - free at the point of delivery Some feminists believe that medicalisation of child-birth has shifted power away from women to men Dependency. The American Hospital Association (AHA) is the national organization that represents and serves all types of hospitals and health care networks

Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. Explore symptoms, inheritance, genetics of this condition Assuming normal life expectancy, central LAR estimates for cancer incidence, based on median doses, ranged from <1 in 2000 for atrial septal defect occlusions to as high as 1 in 150 for valve replacements. For a reduced life expectancy of 50 years, estimated risks are lower by a factor of around 7 UV-sensitive syndrome (UVSS) is a rare autosomal recessive disorder first reported as a distinct clinical entity in 1994 (Itoh et al. Mutation Research 314:233-248, 1994). The patients affected by UVSS exhibit photosensitivity and mild skin abnormalities in sun exposed areas of the skin, with freckling and telangiectasia, with no skin cancers Interestingly, the average life expectancy of a PD patient is generally the same as for normal people . Symptoms of PD The progression of symptoms in PD may take 15 to 20 years or more, but may vary person-to-person [ 8 ]

Boy can&#39;t cry or sweat due to rare cleft disorder

Ectodermal Dysplasia Encyclopedia

Results of a 20-year study led by Dr. Maurice Sokolow showed in 1966 that high blood pressure decreases life expectancy. The research also found that a persistently elevated blood pressure increases the risk of complications, including heart enlargement, eye abnormalities and enlargement of the heart's main pumping chamber The EEC must be performed in accordance with the present guidelines on EEC and post-procedural care and the state of art. If atrial fibrillation reoccur, the patient should undergo a next EEC as soon as possible but preserving the safety time margins (i.e. effective anticoagulation period). The maximal no. of EEC procedures is 3 Maltese. For over 2,000 years, the playful and endearing Maltese has been a popular lapdog of royals and ladies of court. They are easily identified by their flowing, white fur. Although they appear to belong in the terrier group, Maltese are spaniels. As such, they are playful, friendly, and love to spend time with their families

(PDF) EEC syndrome--a case reportSindrome EEC - spot sociale - YouTubeHeterozygous Germline Mutations in the p53 Homolog p63 AreNon Chromosomal Syndromes Associations and Sequencesp63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome

Moreover, Arora and Shah (2007) stated that EECP has been proven to provide symptomatic benefit in angina patients, but has not been proven to show an increase in life expectancy or decrease in cardiovascular events. Furthermore, EECP in heart failure has been proven to be safe, but its effectiveness is still uncertain Vascular Access for Hemodialysis. Hemodialysis (HD) takes some wastes and water out of your blood. Your lifeline on HD is a vascular access. An access is a way to reach your blood to clean it. There are three types of vascular access for HD: An arteriovenous (AV) fistula. A surgeon links an artery to a vein under the skin of your arm As life expectancy increases in the population, the average age of the workforce also increases . With (5) tunnel syndrome canbe used to classify the disorder. However, the majority of MSDs are nonspecific - (Directive 89/391 EEC) guarantees minimum safety and health requirements throughout the EU, while individual Member States are. Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome is a rare monogenic disease with autosomal dominant inheritance caused by mutations in the TP63 gene, leading to progressive corneal keratinocyte loss, limbal stem cell deficiency (LSCD), and eventually blindness. Currently, there is no treatment available to cure or slow down the keratinocyte loss Definition. In pathology, honeycomb lung refers to the characteristic appearance of variably sized cysts in a background of densely scarred lung tissue. Microscopically, enlarged airspaces surrounded by fibrosis with hyperplastic or bronchiolar type epithelium are present. [ 1] However, these changes are nonspecific and are often seen in. Ehlers-Danlos syndrome caused by gene mutations. More than a dozen gene mutations have been found in association with EDS. The classical type of disease is a consequence of mutation in either COL5A1 or COL5A2 gene. The genes involved are responsible for the synthesis of various types of collagen