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Hereditary Mucoepithelial Dysplasia
Urban-Schosser-Spohn syndrome
Presentation
- Cataracts are present in the majority of individuals, often present as early as the second decade of life. Eyelashes and eyebrows may be sparse. Nystagmus has been reported in some patients.[disorders.eyes.arizona.edu]
- We report on two unrelated patients who presented with typical clinical and histologic features of HMD along with other unreported clinical findings.[ncbi.nlm.nih.gov]
- The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
- We present a sporadic case of HMD with a good long-term visual outcome. Case Report A 2-year-old girl was brought to the eye department with red eyes and photophobia.[healio.com]
Entire Body System
Physician
- The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.[rightdiagnosis.com]
- This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.[diseaseinfosearch.org]
- Physicians, Nurse Practitioners and PAs, already on Doximity. Connect with colleagues in the same hospital or clinic You already have 1 invite waiting![doximity.com]
- Thus, instead of using one or more physiological parameters (for example, common CBC ordered by a physician), a differential genetic sequence object for (preferably) the entire genome of a person is compared to a reference differential genetic sequence[freepatentsonline.com]
Juvenile Cataract
- HMD should be considered in the differential diagnosis of childhood alopecia, follicular hyperkeratosis, keratoconjunctivitis, juvenile cataracts, gingival hyperemia, restrictive lung disease, and esophageal stenosis or webs.[ncbi.nlm.nih.gov]
- HMD should be considered in the differential diagnosis of childhood keratoconjunctivitis, and/or juvenile cataracts associated to multi–epithelial lesions.[iovs.arvojournals.org]
Loss of Hair
- Keratitis and loss of hair had followed a cyclical pattern with worsening in the winter. Family history was unremarkable. Figure 1.[healio.com]
- Forty cases of IFAP syndrome have been reported worldwide with different clinical manifestations. [2] An interesting feature of this syndrome is that patients bear a striking resemblance to each other probably due to the loss of hair and photophobia.[ijo.in]
Enuresis
- […] affecting oral, nasal, urethral, anal, vaginal, and conjunctival mucosa with the development of cataracts, follicular keratosis, nonscarring alopecia, and often fatal lung disease. 1 The disease is accompanied by hair loss, diarrhea, occasional melena, enuresis[healio.com]
Respiratoric
Pneumonia
- In some previously described patients, the corneal and pulmonary lesions were progressive and led to blindness, recurrent pneumonia, and/or premature death.[doi.org]
- Chronic rhinorrhea and repeated upper respiratory tract infections frequently progress to pneumonia, which can result in premature death.[healio.com]
- […] pupil morphology Intrahepatic cholestasis Posterior embryotoxon Reticulated skin pigmentation Dilatation of the cerebral artery Coronal craniosynostosis Xanthelasma Renal tubular acidosis Abnormality of the ureter Prolonged neonatal jaundice Short neck Pneumonia[mendelian.co]
Rhinorrhea
- Chronic rhinorrhea and repeated upper respiratory tract infections frequently progress to pneumonia, which can result in premature death.[healio.com]
Gastrointestinal
Constipation
- Her general health throughout childhood was affected by repeated respiratory tract infections, constipation, perianal rashes, recurrent hair loss, and angular stomatitis.[healio.com]
Melena
- […] syndrome affecting oral, nasal, urethral, anal, vaginal, and conjunctival mucosa with the development of cataracts, follicular keratosis, nonscarring alopecia, and often fatal lung disease. 1 The disease is accompanied by hair loss, diarrhea, occasional melena[healio.com]
Perianal Rash
- Her general health throughout childhood was affected by repeated respiratory tract infections, constipation, perianal rashes, recurrent hair loss, and angular stomatitis.[healio.com]
Eyes
Strabismus
- Martin, Long-Term Ocular Follow-Up in a Case with Hereditary Mucoepithelial Dysplasia, Journal of Pediatric Ophthalmology & Strabismus, (2010) ., Dermatologic Diseases, Oral and Maxillofacial Pathology, 10.1016/B978-1-4160-3435-3.50018-X, (741-815), ([doi.org]
- Diseases related with Strabismus and Gastrointestinal hemorrhage In the following list you will find some of the most common rare diseases related to Strabismus and Gastrointestinal hemorrhage that can help you solving undiagnosed cases.[mendelian.co]
Visual Impairment
- Hereditary mucoepithelial dysplasia (HMD) is a rare genodermatosis characterized by nonscarring alopecia, fiery red gums, perineal erythema, and visual impairment.[ncbi.nlm.nih.gov]
- impairment Common - Between 50% and 80% cases Seizures Common - Between 50% and 80% cases Growth delay Common - Between 50% and 80% cases Accelerate your rare disease diagnosis with us Learn more Other less frequent symptoms Patients with Strabismus[mendelian.co]
Red Eye
- Case Report A 2-year-old girl was brought to the eye department with red eyes and photophobia. She was found to have bilateral corneal erosions, thin and brittle hair, alopecia, patchy eczema, and erythroderma.[healio.com]
Skin
Alopecia
- Ohkawara, Ichthyosis follicularis with alopecia and photophobia in a mother and daughter, British Journal of Dermatology, 142, 1, (157), (2000).[doi.org]
- Hereditary mucoepithelial dysplasia (HMD) is a rare genodermatosis characterized by nonscarring alopecia, fiery red gums, perineal erythema, and visual impairment.[ncbi.nlm.nih.gov]
Keratosis
- Hereditary mucoepithelial dysplasia is a dominantly inherited disease, mainly characterized by chronic mucosal lesions associated with keratitis, non-scarring alopecia, keratosis pilaris and perineal intertrigo.[ncbi.nlm.nih.gov]
- Small, skin-colored bumps ( keratosis pilaris ) and early development of cloudy lens ( cataracts ) are also common. Other symptoms may include eye disease that gets worse over time, lung disease and a rough, red tongue.[rarediseases.info.nih.gov]
- Non-scarring alopecia, keratosis pilaris, and perineal intertrigo are usually present. Histological examination of oral mucosa and skin shows dyskeratotic features, decreased number of desmosomes, and intracytoplasmic vacuoles.[disorders.eyes.arizona.edu]
Erythema
- Hereditary mucoepithelial dysplasia (HMD) is a rare genodermatosis characterized by nonscarring alopecia, fiery red gums, perineal erythema, and visual impairment.[ncbi.nlm.nih.gov]
- Nearly all patients clinically display the triad of non‐scarring alopecia, well‐demarcated mucosal erythema and erythematous intertriginous plaques.[doi.org]
Skin Lesion
- Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions. Citing Literature Number of times cited according to CrossRef: 1 Mahmoud Halawa, Mutasim N. Abu-Hasan and Mai K.[doi.org]
- lesion Skin lesion of face Skin lesion of foot Skin lesion of left ear Skin lesion of nose Skin lesion of right ear Skin lesion of scalp Skin or subcutaneous tissue disease Skin or subcutaneous tissue disorder Skin ulcer, acute Clinical Information A[icd9data.com]
- Clinical Examination and Differential Diagnosis of Skin Lesions pp 201-202 Cite as Authors Authors and affiliations Dan Lipsker Chapter First Online: 03 May 2013 1.8k Downloads Abstract Main causes of follicular papules and keratosis pilaris Keywords[link.springer.com]
Hyperkeratosis
- HMD should be considered in the differential diagnosis of childhood alopecia, follicular hyperkeratosis, keratoconjunctivitis, juvenile cataracts, gingival hyperemia, restrictive lung disease, and esophageal stenosis or webs.[ncbi.nlm.nih.gov]
- In addition, there is a congenital hearing loss, palmoplantar hyperkeratosis with leather grain-like keratoderma is present but no follicular hyperkeratosis, and the mode of inheritance is autosomal dominant [ 23 ].[ojrd.biomedcentral.com]
- Examination by the dermatology team revealed follicular hyperkeratosis of the scalp and keratosis pilaris of the arms, legs, and face, but no frank ichthyosis (Figs. 1 and 2 ).[healio.com]
Workup
Urine
Pyuria
- […] oral, nasal, urethral, anal, vaginal, and conjunctival mucosa with the development of cataracts, follicular keratosis, nonscarring alopecia, and often fatal lung disease. 1 The disease is accompanied by hair loss, diarrhea, occasional melena, enuresis, pyuria[healio.com]
Serum
Anisocytosis
- Papanicolaou smears show lack of epithelial cell maturation, poikilocytosis, anisocytosis, large paranuclear cytoplasmic vacuoles, and cytoplasmic strand-shaped inclusions.[ncbi.nlm.nih.gov]
Poikilocytosis
- Papanicolaou smears show lack of epithelial cell maturation, poikilocytosis, anisocytosis, large paranuclear cytoplasmic vacuoles, and cytoplasmic strand-shaped inclusions.[ncbi.nlm.nih.gov]
Treatment
- It generally carries a poor visual prognosis due to corneal scarring, amblyopia, and side effects of the treatment.[ncbi.nlm.nih.gov]
- Treatment Treatment Options: No effective treatment has been found. References References Boralevi F, Haftek M, Vabres P, Lepreux S, Goizet C, Leaute-Labreze C, Taieb A.[disorders.eyes.arizona.edu]
- The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
- We believe this disorder should be brought to the attention of colposcopists because misinterpreted abnormal cervical Pap tests can lead to unnecessary treatment in such affected individuals.[doi.org]
Prognosis
- It generally carries a poor visual prognosis due to corneal scarring, amblyopia, and side effects of the treatment.[ncbi.nlm.nih.gov]
- Significantly revised and updated content throughout this edition brings you the latest information on the etiology, clinical features, histopathology, treatment, and prognosis of each disease entity, as well as cutting-edge topics such as bisphosphonate[books.google.de]
Etiology
- Significantly revised and updated content throughout this edition brings you the latest information on the etiology, clinical features, histopathology, treatment, and prognosis of each disease entity, as well as cutting-edge topics such as bisphosphonate[books.google.de]
- They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
- Etiology and outcome of childhood chronic cough using a simple diagnostic approach Pediatric Asthma, Allergy and Immunology. 18: 55-61. DOI: 10.1089/pai.2005.18.55 0.72 2002 Mehdi NF, Weinberger M, Abu-Hasan MN. Radiological case of the month.[academictree.org]
Epidemiology
- Insights from a population-based epidemiological study and implications in surgical management. Ann Surg 253:223–230 PubMed CrossRef Google Scholar Yousefzadeh DK (1983) Tubular colonic duplication: review of 1876–1981 literature.[link.springer.com]
- Epidemiology The association of ichthyosis follicularis, atrichia, and photophobia was first reported as a syndrome by MacLeod in 1909 in three boys [ 1 ].[ojrd.biomedcentral.com]
Sex distribution
Age distribution
Pathophysiology
- Perceptions and pathophysiology of dyspnea and exercise intolerance. Pediatric Clinics of North America. 56: 33-48, ix. PMID 19135580 DOI: 10.1016/j.pcl.2008.10.015 0.72 2008 Mehdi NF, Weinberger MM, Abu-Hasan MN.[academictree.org]
- Pediatr Surg Int 25:795–798 PubMed CrossRef Google Scholar Carlyle BE, Borowitz DS, Glick PL (2012) A review of pathophysiology and management of fetuses and neonates with meconium ileus for the pediatric surgeon.[link.springer.com]
Prevention
- The disorder is attributed to improper formation of desmosomes and gap junctions, which prevents proper cornification of the epithelial layer of the skin.[en.wikipedia.org]
- We used soft lenses with high water content, replaced every 6 weeks on average to prevent problems with build up of proteins. Glaucoma has not been reported in HMD.[healio.com]
- […] topics.Over 200 new illustrations have been added to this popular, visual reference.A new section on bisphosphonate-associated osteonecrosis thoroughly explores and illustrates this recently identified complication resulting from medications used to prevent[ark.no]
- Hereditary mucoepithelial dysplasia ia a rare multi-organ disorder associated with abnormal cervical smears, a condition colposcopists should be aware of the prevent over-treatment Department Of Gynaecology, Colchester General Hospital, Colchester, Essex[journals.lww.com]