Congenital Dystrophy of the Great Toe Nails

April 2022

 A concerned mother brought in her 20 month infant for diagnosis of a nail dystrophy that she had first appreciated when he was a few months old.  The toddler was normal in all other respects.  She had seen two pediatricians who could not come up with a diagnosis and she hoped for some clarity.

The examination showed a healthy well-cared toddler.  Both great toe nails were short, thickened and lusterless.  There was some cross ridging and the distal edge of the nails seems to be growing into the hyponychium. His other nails were all normal.

Diagnosis:  Congenital Dystrophy of the Great Toe Nails

This entity was well-described by PD Samman (1978):
"The condition is present at birth but in no case has there been a family history of a similar condition. The nail is seen to be of a dark colour, shorter than a normal nail and tends to be pointed."
Much has been learned since 1978, and the condition has been renamed as Congenital Malalignment of the Great Toenail (CMGT) (4).

Note: As we learned about CMGT, it became obvious that to help this child perhaps, a pediatric podiatrist would be the best person to see.  We will reach out to find one in the area he and his parents live in.  In the mean time, we will start him on tretinoin cream.

Follow-up December 2023

The patient presents at 3 years old with worsening symptoms. His mother relates that he complains of pain in the toes now and that the great toenails have continued to grow abnormally.

On exam, both great toenails are thickened, discolored and there is onycholysis of the left great toenail.

Question: Do any of our readers have experience with children with similar problems.

Reference:
1. P.D.Samman.  Great toe nail dystrophy. Clinical and Experimental Dermatology (1978) 3, 8r.

2. Dawson TA. An inherited nail dystrophy principally affecting the great toe nails. Clin Exp Dermatol. 1979. PMID: 509763.
Summary::A nail dystrophy transmitted by an autosomal dominant gene of variable expression is described. The great toe nails are principally affected. In some cases grossly deformed nails are present, in others little more than slight opacity and discoloration of the nails is apparent.

3. Dawson TA. An inherited nail dystrophy principally affecting the great toe nails: further observations. Clin Exp Dermatol. 1982. PMID: 7127894
Conclusion: I would also like to suggest that the dystrophy is not uncommon, ten further cases having been identified in this area since 1978, that the great toenails on the right side may be more frequently and more severely affected than those on the left and that, paradoxically, some affected great toe nails
may eventually appear rather larger than average.  Finally I think it worth noting again that other nails apart from the great toe nails may occasionally be affected. [Dawson noted: That spontaneous resolution can occur.  Although Samman considered that the condition was probably permanent,

4. Benjamin Buttars, et. al. Congenital Malalignment of the Great Toenail, the Disappearing Nail Bed, and Distal Phalanx Deviation: A Review. Skin Appendage Disord. 2022 Jan; 8(1): 8–12.  Full Text

5.  Judith Domínguez-Cherit, Anabell Andrea Lima-Galindo. Congenital malalignment of the great toenail: Conservative and definitive treatment. Pediatr Dermatol. 2021 May;38(3):555-560.