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]

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]

Her general health throughout childhood was affected by repeated respiratory tract infections, constipation, perianal rashes, recurrent hair loss, and angular stomatitis. [healio.com]

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]

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]

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 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]

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]

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]

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]

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]

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]

Otherwise, follicular hyperkeratosis can be treated using topical keratolytics, urea preparations, and emollients. Topical retinoids are not suitable because of their irritation. [link.springer.com]

[…] 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]

Papanicolaou smears show lack of epithelial cell maturation, poikilocytosis, anisocytosis, large paranuclear cytoplasmic vacuoles, and cytoplasmic strand-shaped inclusions. [ncbi.nlm.nih.gov]

Papanicolaou smears show lack of epithelial cell maturation, poikilocytosis, anisocytosis, large paranuclear cytoplasmic vacuoles, and cytoplasmic strand-shaped inclusions. [ncbi.nlm.nih.gov]