sparse eyelashes

Keratosis Follicularis Spinulosa Decalvans, AD

Clinical Characteristics
Ocular Features: 

This genodermatosis has signs and symptoms beginning in childhood.  Photophobia is a prominent symptom.  The eyebrows and eyelashes are thin and sparse.  Recurrent blepharitis and keratitis are often present.

Systemic Features: 

The scalp is often dry and scaly.  Scalp alopecia begins sometime in the first two decades of life and becomes a major complaint by the third or fourth decade.  The face and especially the cheeks are often erythematous.  The scalp can have multiple follicular pustules which are most prominent in the occipital and nuchal areas.  Follicular keratotic papules are often located on the trunk and extensor areas of the limbs.  Histology of scalp skin biopsies show epidermal hyperplasia and an extensive perifollicular inflammatory infiltrate.

Enamel hypoplasia result in multiple and recurrent caries and loss of teeth.  The nails are often dystrophic.

Genetics

This is likely an autosomal dominant disorder based on the transmission pattern of several reported families but no locus or mutation has been reported.

There is also an X-linked form of Keratosis Follicularis Spinulosa Decalvans (KFSDX) (308800) which is more common.

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

Dental surveillance and treatment are important.  Ocular lubrication can be helpful in severe cases and ophthalmic topical antibiotics may be useful in treatment of blepharitis and keratitis.Clinica

References
Article Title: 

Mandibulofacial Dysostosis with Alopecia

Clinical Characteristics
Ocular Features: 

The extensive dysplasia of the facial bones involves those of the orbital rims and zygomatic arches.  The orbital rims can be malformed and there is often a broad depression at the inferolateral region of the eyes.  Hypoplasia or even aplasia of the eyelids maybe present and some individuals have colobomas of the lower eyelids.  The lacrimal punctae may be temporally displaced.  The eyebrows and eyelashes are often sparse as part of the generalized alopecia.

Systemic Features: 

This is a disorder of craniofacial development resulting in extensive malformations of facial bones and skin.  Different rates of development among these structures leads to facial asymmetry in many patients. Maxillary, zygomatic arch, and mandibular bones are dysplastic resulting in micrognathia and a flat midface.   The temporomandibular joints are absent and the external ear canals are often incompletely formed.  Conductive hearing loss is common with hypoplastic ossicular chains while the pinnae are low-set, crumpled and abnormally cupped.  There may be preauricular tags or pits present.  Tooth eruption is often delayed and there may be agenesis of many permanent teeth.  The maxillary sinuses may be absent.  Cleft palate is often present.

Genetics

Heterozygous mutations in the EDNRA gene (4q31) are responsible for this condition.  No familial cases have been reported and it can be assumed that the mutations arise de novo. 

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

There is no treatment for the overall condition but individual anomalies such as the colobomas, dental deformities and cleft palate may be surgically repaired.  Upper airway obstruction may require tracheostomy in infants.

References
Article Title: 

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

Gordon CT, Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares AL, Oufadem M, Kurihara Y, Adameyko I, Picard A, Breton S, Pierrot S, Biosse-Duplan M, Voisin N, Masson C, Bole-Feysot C, Nitschke P, Delrue MA, Lacombe D, Guion-Almeida ML, Moura PP, Garib DG, Munnich A, Ernfors P, Hufnagel RB, Hopkin RJ, Kurihara H, Saal HM, Weaver DD, Katsanis N, Lyonnet S, Golzio C, Clouthier DE, Amiel J. Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. Am J Hum Genet. 2015 Apr 2;96(4):519-31.

PubMed ID: 
25772936

Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

Clinical Characteristics
Ocular Features: 

Sparse hair can be noted at birth and by several years of age the alopecia of the eyelids and eyebrows is complete.  The upper eyelids may be swollen at birth as well. 

Systemic Features: 

The facial features are unusual.  The nose appears long and may have a broad nasal root.  The lips are full and the lower jaw is prominent. Evidence of developmental delay has been reported in one patient.

The scrotum can be edematous at birth and sometimes contains large hydroceles.  Hair is sparse in infancy but within a few years alopecia is complete.  Telangiectases on the scalp, scrotum, and limbs are evident at several years of age.  Pulmonary vascular congestion and lymphangiectasia may be present in some individuals antenatally.  Renal failure, sometimes with hypertension can occur at any time from early childhood to young adulthood.  Renal biopsy has shown histologic features consistent with membranoproliferative glomerulonephritis and thrombotic microangiopathy.  This may be preceded by proteinuria in infants as young as 2 years. 

Genetics

This condition is the result of heterozygous mutations in the SOX18 gene (20q13.33). 

Homozygous mutations in the same gene may be responsible for a somewhat similar disorder (HLTS) (607823) which has many of the same facial and systemic features but lacks the renal disease. 

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

Some patients have benefitted from renal transplantation.

References
Article Title: 

Palmoplantar Keratoderma and Woolly Hair

Clinical Characteristics
Ocular Features: 

Eyebrows and eyelashes are sparse.

Systemic Features: 

Striate palmoplantar keratoderma, more pronounced in the soles, with leukonychia are present.  Scalp and body hair are sparse.  Woolly hair is present in some patients.  The toes may be somewhat rotated with a bulbous appearance distally.  Older individuals have more marked skin changes suggesting some progression.

Genetics

This autosomal recessive condition is the result of homozygous missense mutations in the KANK2 gene (19p13.2).  Eight patients in two families of Arab descent have been reported.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

No treatment is known.

References
Article Title: 
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