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Meibomian gland dysfunction in a case of ichthyosis follicularis with alopecia and photophobia syndrome.

Fatima T, Mathur U, Acharya M - Indian J Ophthalmol (2014)

Bottom Line: Other systemic features were prominent high forehead and large ears.Her father had similar symptoms.She is asymptomatic at present.

View Article: PubMed Central - PubMed

Affiliation: Department of Cornea, Dr Shroff Charity Eye Hospital, Daryaganj, New Delhi, India.

ABSTRACT
We are reporting an interesting case of ichthyosis follicularis with alopecia and photophobia syndrome in a daughter and father from the Indian subcontinent associated with Meibomian gland dysfunction. A three-year-old female child presented with pain, redness and severe photophobia in both eyes since one month. Cutaneous examination revealed ichthyosis, absence of hair all over the body including eyebrows, scalp and angular cheilosis. Ocular examination revealed bilateral severe meibomianitis, multiple superficial punctate keratitides in right eye and corneal epithelial defect in the left eye. Other systemic features were prominent high forehead and large ears. Her father had similar symptoms. Her symptoms improved after adequate treatment of meibomian gland dysfunction. She is asymptomatic at present.

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Severe Meibomian gland dysfunction
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Figure 3: Severe Meibomian gland dysfunction

Mentions: A three-year-old child presented with complaints of pain, watering and severe photophobia in both eyes since one month. There was history of absence of hair all over her body including eyebrows and eyelashes since birth. There was dryness, itching and scaling of skin since birth, and recurrent self-resolving angular cheilosis. There was no history of delayed milestones, deafness, diarrhea and seizures. There was no history of consanguinity in the family. Vision could not be recorded at presentation due to severe photophobia. Ocular examination revealed bilateral severe meibomianitis, multiple superficial punctate keratitides in the right eye and a large corneal epithelial defect (7 mm × 7 mm) in the left eye [Fig. 1a–c]. Fundus in right eye was within normal limits and in the left eye was not visible. Cutaneous examination revealed non-cicatricial complete body alopecia with severe angular cheilosis. The palms and soles were unaffected [Fig. 2a and b].


Meibomian gland dysfunction in a case of ichthyosis follicularis with alopecia and photophobia syndrome.

Fatima T, Mathur U, Acharya M - Indian J Ophthalmol (2014)

Severe Meibomian gland dysfunction
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4061687&req=5

Figure 3: Severe Meibomian gland dysfunction
Mentions: A three-year-old child presented with complaints of pain, watering and severe photophobia in both eyes since one month. There was history of absence of hair all over her body including eyebrows and eyelashes since birth. There was dryness, itching and scaling of skin since birth, and recurrent self-resolving angular cheilosis. There was no history of delayed milestones, deafness, diarrhea and seizures. There was no history of consanguinity in the family. Vision could not be recorded at presentation due to severe photophobia. Ocular examination revealed bilateral severe meibomianitis, multiple superficial punctate keratitides in the right eye and a large corneal epithelial defect (7 mm × 7 mm) in the left eye [Fig. 1a–c]. Fundus in right eye was within normal limits and in the left eye was not visible. Cutaneous examination revealed non-cicatricial complete body alopecia with severe angular cheilosis. The palms and soles were unaffected [Fig. 2a and b].

Bottom Line: Other systemic features were prominent high forehead and large ears.Her father had similar symptoms.She is asymptomatic at present.

View Article: PubMed Central - PubMed

Affiliation: Department of Cornea, Dr Shroff Charity Eye Hospital, Daryaganj, New Delhi, India.

ABSTRACT
We are reporting an interesting case of ichthyosis follicularis with alopecia and photophobia syndrome in a daughter and father from the Indian subcontinent associated with Meibomian gland dysfunction. A three-year-old female child presented with pain, redness and severe photophobia in both eyes since one month. Cutaneous examination revealed ichthyosis, absence of hair all over the body including eyebrows, scalp and angular cheilosis. Ocular examination revealed bilateral severe meibomianitis, multiple superficial punctate keratitides in right eye and corneal epithelial defect in the left eye. Other systemic features were prominent high forehead and large ears. Her father had similar symptoms. Her symptoms improved after adequate treatment of meibomian gland dysfunction. She is asymptomatic at present.

Show MeSH
Related in: MedlinePlus