Presentation
Discussion In polycoria, multiple pupillary openings are present in theiris. It is generally an isolated congenital abnormality andmay be either true or pseudo-polycoria. [docslide.net]
Specific molecular defects have been reported in well-known syndromes presenting with hypertrichosis. [ijponline.biomedcentral.com]
2016/82/6/700/187690 Sir, A 16-year-old girl and her 2-year-old brother presented for clinical evaluation of long eyeleshes. The increased eyelash growth had been present since birth in both siblings [Figure 1] and [Figure 2]. [ijdvl.com]
This presentation covers this topic in detail that can aid physicians in effective patient care. PS: The slides in the preview look skewed, download the presentation to view the font used in Office 2012 and upwards. 1. Presented By: Dr. [slideshare.net]
Bullous impetigo Bullous impetigo presents with small vesicles that evolve into flaccid transparent bullae. It heals without scarring. [infinitypath.com.au]
Entire Body System
- Weakness
[…] dysgenesis 8p23.1 microdeletion syndrome Coffin-Siris syndrome Complete atrioventricular canal - Fallot tetralogy Complete atrioventricular canal - left heart obstruction Complete atrioventricular canal - ventricle hypoplasia Distal myopathy with vocal cord weakness [csbg.cnb.csic.es]
Microsporum andouinii, M. canis, M. ferrugineum, M. gypsum, M. phanum, Trichophyton verrucosum, T. mentagrophytes endothrix fungal spores growing within hair shaft; Trichophyton tonsurans, T. violaceum exclamation point hairs shortened hair from fracture at weak [dermadvocate.net]
Signs & Symptoms The symptoms of hypoparathyroidism are predominantly due to low levels of calcium in the blood which leads to a variety of symptoms including fatigue, muscle weakness, twitching and cramping of the extremities, or spasms of the hands, [rarediseases.org]
[…] including the spleen, liver and lymph nodes Also referred to as Kala azar (Indian name for visceral leishmaniasis and means “black disease”) because of the characteristic darkening of the skin in patients with the disease Symptoms include bouts of fever, weakness [infinitypath.com.au]
In this phase, up to 30% of the patients may have fever, weakness, headaches, arthralgias/myalgias, and glomerulonephritis which not infrequently develop in association with varied dermatological manifestations, such as non-specific (toxic) erythema, [intechopen.com]
Respiratoric
Gastrointestinal
- Failure to Thrive
[…] to thrive / difficulties for feeding in infancy / growth delay - Flat foot - Flexion deformity of toes (excluding big toe) / hammer toe / camptodactyly of toes - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hearing [csbg.cnb.csic.es]
They are often associated with cognitive delay, failure to thrive and signs of dysmorphism of the face and extremities (diagnostic flow-chart in Fig. 1 ). [ijponline.biomedcentral.com]
- Vomiting
A part from mild gastrointestinal disorders (diarrhea, nausea, vomiting), a mild ‘rash or photosensitivity reaction’ was observed in 42% of subjects receiving the highest daily dosages. [intechopen.com]
- Nausea
A part from mild gastrointestinal disorders (diarrhea, nausea, vomiting), a mild ‘rash or photosensitivity reaction’ was observed in 42% of subjects receiving the highest daily dosages. [intechopen.com]
Skin
- Hypertrichosis
Hypertrichosis can be generalized and localized and each of these types can be further sub-divided into congenital and acquired. This classification gives a sub-type of hypertrichosis called localized acquired hypertrichosis. [hypertrichosis.com]
Congenital hypertrichosis Congenital hypertrichosis lanuginosa, also known as hypertrichosis universalis, and congenital hypertrichosis terminalis are very rare syndromes with autosomal dominant inheritance. [dermnetnz.org]
Legend: CGH: congenital generalized hypertrichosis Congenital generalized hypertrichosis as most prominent feature Congenital hypertrichosis lanuginosa Inverse mutation on the 8q chromosome Congenital hypertrichosis universalis Autosomal dominant mutation [ijponline.biomedcentral.com]
( 12838570 ) Kondoh T....Shirahata A. 2003 47 Epidermal growth factor receptor inhibition induces trichomegaly. ( 12899508 ) Dueland S....Tveit K.M. 2003 48 Acquired trichomegaly and hypertrichosis in metastatic adenocarcinoma. ( 7671421 ) VAclez A... [malacards.org]
[…] interna, hypothyroidism, idiopathic gingival fibromatosis and hypertrichosis, malabsorption s., multiple sclerosis, PCT, POEMS s., post encephalitis, schizophrenia congenital : Ambras s., Coffin-Siris s., congenital generalized hypertrichosis, congenital [dermadvocate.net]
- Hirsutism
Hirsutism is also known as hirsutes. Hirsutism What is hypertrichosis? Hypertrichosis is non-hirsute excessive hair growth over and above the normal for the age, sex and race of a male or female. [dermnetnz.org]
( 23010833 ) Fabbrocini G....Ayala F. 2012 26 Eyelash trichomegaly: review of congenital, acquired, and drug-associated etiologies for elongation of the eyelashes. ( 22607279 ) Paul L.J....Kurzrock R. 2012 27 Epidermal growth factor receptor-induced hirsutism [malacards.org]
The term hirsutism is usually referred to patients, mainly women, who show excessive hair growth with male pattern distribution. [ijponline.biomedcentral.com]
[…] s., Fisch’s s., prolidase deficiency, Rothmund-Thomson s., Seckel’s s., vitiligo, Waardenburg s., Werner s. gray patch discrete, gray, lusterless hair; tinea capitis Hertogh’s sign lateral thinning of eyebrow hair; atopic dermatitis, hypothyroidism hirsutism [dermadvocate.net]
Hypertrichosis is excessive hair growth over and above the normal for the age, sex and race of an individual, in contrast to hirsutism, which is excess hair growth in women following a male distribution pattern. [infinitypath.com.au]
Eyes
- Corneal Irritation
It can be observed in association with corneal irritation, cataracts, and hereditary spherocytosis. {ECO:0000269 PubMed:24989505}. Note=The disease is caused by mutations affecting the gene represented in this entry. [genecards.org]
It can be observed in association with corneal irritation, cataracts, and hereditary spherocytosis. [uniprot.org]
Neurologic
- Irritability
[…] rare disease Familial isolated trichomegaly Disease definition Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation [orpha.net]
It can be observed in association with corneal irritation, cataracts, and hereditary spherocytosis. {ECO:0000269 PubMed:24989505}. Note=The disease is caused by mutations affecting the gene represented in this entry. [genecards.org]
It can be observed in association with corneal irritation, cataracts, and hereditary spherocytosis. [uniprot.org]
[…] variegate porphyria hypertrichosis, localized acquired : Becker’s nevus, bites, burns (periphery), chickenpox, chromic osteomyelitis, congenital AV fistula, denervated areas, HIV (eyelashes), immunization sites (smallpox, diphtheria-tetanus), insect bites, irritants [dermadvocate.net]
Fluctuations in serum calcium lead to neuromuscular irritability which may result in numbness, tingling, and cramping of the extremities or seizures. [rarediseases.org]
Treatment
Eyelash Trichomegaly Following Use of New Selective Pan-FGFR Inhibitors. ( 28538953 ) BActrian S....Sibaud V. 2017 5 Isolated Unpigmented Trichomegaly of the Groin in 3 Patients. ( 28232920 ) Grimalt R. 2017 6 Trichomegaly and scalp hair changes following treatment [malacards.org]
This additional growth is typically restricted to the eye under treatment, but a bilateral effect of treatment of one eye and hypertrichosis of the ipsilateral of the ear lobe has been reported. [hypertrichosis.com]
Considerable strides have been made in the treatment of fungal diseases (onychomycoses) with the appearance of new therapeutic agents. [books.google.de]
Skin adverse effects under treatment of HBV infection 5. [intechopen.com]
Standard Therapies Treatment Treatment is aimed at raising calcium levels high enough to provide symptom relief without causing abnormally high levels of calcium excretion in the urine (hypercalciuria). [rarediseases.org]
Prognosis
Although spectrum of mutations in CYP1B1 have been implicated in PCG Very few reported genotype phenotype correlations Frameshift and R 390C are associated with severe phenotypes and poor prognosis IOVS April 2004 ;45 :1149-56 19. [slideshare.net]
Prognosis depends on the cause. The most common types of excessive hair growth persist life-long. Hirsutism tends to be more pronounced with age. [dermnetnz.org]
The prognosis is related to the pathological events associated with the hair disorder, in particular to the epilepsy and cardiac or renal anomalies. [ijponline.biomedcentral.com]
Etiology
"Eyelash trichomegaly: review of congenital, acquired, and drug-associated etiologies for elongation of the eyelashes". International Journal of Dermatology. 51 (6): 631–646. doi : 10.1111/j.1365-4632.2011.05315.x. ISSN 1365-4632. [en.wikipedia.org]
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
リンク ICD-11: LD27.0Y ICD-10: H02.7 OMIM: 190330 文献 PMID: 22607279 (description, env_factor) 著者 Paul LJ, Cohen PR, Kurzrock R タイトル Eyelash trichomegaly: review of congenital, acquired, and drug-associated etiologies for elongation of the eyelashes. [genome.jp]
Eyelash trichomegaly: review of congenital, acquired, and drug-associated etiologies for elongation of the eyelashes. Int J Dermatol 2012;51:631-46. [ PUBMED ] 5. Almagro M, del Pozo J, García-Silva J, Martínez W, Castro A, Fonseca E. [ijpd.in]
Rothman I.L. 2012 25 Trichomegaly of the eyelashes during therapy with epidermal growth factor receptor inhibitors: report of 3 cases. ( 23010833 ) Fabbrocini G....Ayala F. 2012 26 Eyelash trichomegaly: review of congenital, acquired, and drug-associated etiologies [malacards.org]
Epidemiology
Relevant External Links for FGF5 Genetic Association Database (GAD) FGF5 Human Genome Epidemiology (HuGE) Navigator FGF5 Tumor Gene Database (TGDB): FGF5 Atlas of Genetics and Cytogenetics in Oncology and Haematology: FGF5 No data available for Genatlas [genecards.org]
[…] q23.1q23.2) - Monosomy 17q23.1-q23.2 - Monosomy 17q23.1q23.2 Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]
Terminology Classification Systems Epidemiology and Genetics Pathogenesis Clinical Presentation Diagnostic Examination EUA Medical Management Surgical Management Visual Rehabilitation Impact of Childhood Glaucoma Conclusion 3. [slideshare.net]
Epidemiology The incidence of CGH is unknown, but held to be essentially rare. The incidence is notably higher when the hypertrichosis is one of several signs involved in a complex syndrome. [ijponline.biomedcentral.com]
Pathophysiology
J Invest Dermatol 2009May;129510881099 36 - D Farhi, N Dupin, Pathophysiology, etiologic factors, and clinical management of oral lichen planus, part I: facts and controversies. [intechopen.com]
Prevention
How can hirsutism and hypertrichosis be prevented? It is not yet possible to prevent genetically predetermined excessive hair growth. Insulin resistance associated with obesity can be reduced by weight loss and dietary control. [dermnetnz.org]
They can therefore shorten and prevent attacks but a single course cannot prevent future attacks. Recurrent courses may be given or the medication may be taken incessantly to prevent numerous repeated attacks. [infinitypath.com.au]
Sudden, muscular spasms affecting the larynx (laryngospasm) causes closure of the upper end of the trachea and prevents air form reaching the lungs. [rarediseases.org]
PRIMARY CONGENITAL GLAUCOMA Faulty atrophy of mesodermal tissue Faulty cleavage of mesodermal tissue Excessive collagenous beams preventing posterior sliding of iris and ciliary body leading to anterior iris insertion and TM obstruction Abnormal migration [slideshare.net]
G Ison, Prevention and early treatment of opportunistic viral infections in patients with leukemia and allogeneic stem cell transplantation recipients. [intechopen.com]