Pahroul Davé, APRN

You are asked to evaluate asymptomatic toenail changes in a 13-year-old girl whose great toenails have become yellow, thickened, ridged, and crusted proximally on the left over the last 8 months. What’s the diagnosis?

Diagnosis: Congenital malalignment syndrome

Congenital malalignment syndrome or congenital malalignment of the great toes.

Congenital malalignment syndrome is a dystrophic nail disorder caused by the lateral rotation of the nail matrix. The malalignment results in altered growth of the nail plate that is not directed along the major axis of the distal phalanx.

 Clinical appearance presents as lateral deviation of the nail plate, nail plate thickening, nail discoloration (brown, black, green-brown, yellow), transverse grooves across the nail, and frequently only involving the great toes.

Complications of the disorder include acute/chronic paronychia, onychogryphosis (hypertrophy of nail), onycholysis (detachment of the nail from bed), onychomadesis (shedding of a large portion of the nail), onychocryptosis (ingrown nail), hyperkeratosis (increased scaling of the nail bed), brachyonychia (short nail), and discoloration of the nail plate.1-3 Variations in the condition include medial deviation, the involvement of other toes and fingers, and single toe involvement.

The disorder is generally present at the time of birth. However, in individuals with minimal deviation, clinical manifestations may not be apparent until a child is older or begins to experience repetitive microtraumas or mechanical stress to the toenail from tight shoes, activities, and sports.

The etiology and pathogenesis of congenital malalignment are debated in the literature. Etiology is thought to be due to autosomal dominant genetic factors, extrinsic factors including constriction of toes by amniotic bands, increased intrauterine pressure, vascular abnormalities during fetal life, or a combination of genetically determined malalignment plus superimposed cumulative effects of postnatal trauma.

 Pathological features are discussed as increased tension of the extensor tendon of the hallux and desynchronization in growth between the nail and the distal phalanx of the hallux, resulting in larger nail plates.

The Table shows that a differential diagnosis would include onychomycosis, connective tissue disorders, nail apparatus tumors, and dermatoses with nail involvement (psoriasis, lichen, and ectodermal dysplasia).

The treatment of congenital malalignment is based on the degree of deviation. Spontaneous improvement may occur in half of patients before age 10 years.

 Conservative treatment in an individual with minimal deviation involves managing complication and wearing proper-fitting, comfortable footwear.

 Severe deviations may call for surgery to align the nail matrix and nail plate, and positional correction or elongation of the extensor tendon of the hallux.

 Nail matrixectomy would be an option for those who would tolerate the cosmetic deficit.

There was no family history of any nail disorder in this family. The patient was not symptomatic, and subsequently, the patient and mother were educated on the diagnosis and treatment. It was recommended that she switch to wider, comfortable footwear and avoid high-heeled shoes. Complications such as fungal and bacterial infections can be treated as they arise.

A dermatology referral was offered for possible nail matrixectomy, or nail matrix and nail plate realignment. The patient was educated that spontaneous resolution sometimes happens but typically occurs in those younger than 10 years. She has had no subsequent follow-up visits for this specific issue.

Catalfo P, Musumeci ML, Lacarrubba F, Dinotta F, Micali G. Congenital malalignment of the great toenails: a review. 

Batalla A, Curto JR. Congenital malalignment of the great toenail. Report of two cases. 

Pollack K, Zlotoff B, Wilson B. Hyperkeratosis and discoloration of the toenails in an 8-year old. 

Ҫayirli M, Parlak N, Parlak A, Ӧzenҫ S. Congenital malalignment of the great toenails. 

. 2016;10(1):16101l1. doi:10.6003/jtad.16101I1

Decker A, Scher RK, Avarbock A. Acquired congenital malalignment of the great toenails. 

Articles

A 13-year-old girl presents with great toenails have become yellow, thickened, ridged, and crusted proximally on the left over the last 8 months. 

Congenital malalignment syndrome

The mother of a healthy 4-week-old boy brings him to the office for evaluation of a small pit on the medial canthus of the left eye, noted since birth. There is constant drainage of tears onto the left side of his face and exudate on the bottom of the left medial canthus.

A mother brought to the clinician’s attention a small opening located inferonasally from medial canthus during a well-check examination of a 4-week-old male infant. Symptoms included epiphora and exudation from the left eye. There was no inflammation or discharge from that opening, which appeared exactly like preauricular pit/preauricular sinus. The remaining eye examination was normal. The infant’s birth history was normal except for acquired left clavicular fracture because of birth trauma.

Congenital lacrimal fistulas are developmental, rudimentary, supernumerary lacrimal canaliculi connecting skin to common canaliculus or lacrimal sac. These fistulas are located inferonasally from the medial canthus and are unilateral, but bilateral cases have been reported. The incidence is 1 in 2000.

 Etiopathogenesis based upon histopathology suggest outgrowth from common canaliculus failing to fuse and aberrant budding.

 The majority of these fistulas are lined with squamous epithelium, but rarely columnar epithelium or cuboidal epithelium have been found.

The diagnosis of lacrimal fistula is mostly clinical, but irrigation of the lacrimal sac with fluorescein balanced salt solution can be used to detect skin ostium and the patency of the nasolacrimal duct. Dacryoendoscopy, computerized tomography, and polyvinyl siloxane cast also have been used to confirm diagnosis.

Congenital lacrimal fistulas are mostly asymptomatic; however, there can be complications or undesired symptoms attributed to the fistula. For example, chronic epiphora through the fistula or eye, or mucoid discharge from the fistula, can occur. In addition, coughing and blowing one’s nose may cause clear discharge.

 There also may be redness of medial canthal angle, or constant tearing during crying. A mucocele can be found if associated with nasolacrimal duct obstruction.

There is no evidence of any systemic associations, but congenital lacrimal fistulas have been found with Down syndrome; naso-orbital meningocele; VACTERL association-like VATER (vertebral defects, anal atresia, tracheoesophageal fistula, esophageal atresia, and radial dysplasia); ectrodactyly-ectodermal dysplasia-clefting syndrome; and CHARGE syndrome (coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities and ear abnormalities).

The most common differential diagnosis would be congenital nasolacrimal duct obstruction or stenosis attributed to failure of the opening of the lacrimal duct at birth. Dacryostenosis is commonly attributed to an imperforate membrane at the valve of Hasner.

 Duct obstruction or stenosis there is typically constant epiphora unrelated to crying, and it typically gets better with time and lacrimal sac massage.

Asymptomatic patients are managed conservatively. Symptomatic fistulas are treated with various surgical procedures such as probing, fistulectomy, and dacryocystorhinostomy.

In this infant, there was no inflammation or discharge from the opening. The remaining eye examination was normal.

The patient is currently being managed conservatively for epiphora. He is awaiting evaluation by an otorhinolaryngologist for fistulectomy with or without dacryocystorhinostomy.

1. Chaung JQ, Sundar G, Ali MJ. Congenital lacrimal fistula: a major review. 

2. FranÃ§ois J, Bacskulin J. External congenital fistulae of the lacrimal sac. 

3. Welham RA, Bergin DJ. Congenital lacrimal fistulas. 

4. Anderson SR, Wesley RE. CT scan of cutaneous lacrimal (anlage) fistula. 

5. Ãrge FH, Boente CS. The lacrimal system. 

6. Ugurbas SH, Zilelioglu G. Congenital lacrimal fistula. 

Pahroul Davé, APRN

Articles

Congenital malalignment syndrome

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