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.
I agree with congenital malalignment of the great toenail. Please see this reference - Congenital malalignment of the great toenail: Conservative and definitive treatment
ReplyDeleteJudith Domínguez-Cherit 1 , Anabell Andrea Lima-Galindo 1
Affiliations
PMID: 33738847 DOI: 10.1111/pde.14548
Abstract
Congenital malalignment of the great toenail, or ungual malalignment, is a rarely recognized disorder. It is characterized by lateral deviation of the longitudinal axis of the nail plate with respect to the distal phalanx, and if untreated, complications in the late teens and adulthood may arise. In this study, we have reviewed conservative and definitive treatments for this disorder.
Keywords: congenital; malalignment of the great toenail; nail disorder; nail surgery; toenail; ungual malalignment.
Datoo Cheng Leng Ong, Malaysia: While our learned colleagues are sharing with us their knowledge of Congenital
ReplyDeleteMalignant of Great Toenails, may I just made a simple observation as to our patient’s left great toe:-
In the clinical photograph, a tumour with possibly a few smaller tumours, can be seen just below the said nail elevated by the process of onycholysis. Should we also rule out subungual fibromas ( if so, an early onset of tuberous sclerosis ) or subungual exostosis?
Monica Lawry, MD: Looks like this…
ReplyDeletehttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6219217/#:~:text=Congenital%20malalignment%20of%20the%20great%20toenail%20is%20an%20underestimated%20dystrophic,while%20late%20onset%20is%20uncommon.
Fran Storrs, MD: Is big toe malformed. Bony projection under nail matrix maybe? X-ray?
ReplyDeleteBrian Maurer, PAC:
ReplyDeleteI’ve seen a couple of kids like this over the course of my career. At least one was traced to exposure to phenytoin in utero, although there was involvement of several other nails as well. (I do note some degree of involvement of the nails of the fifth toes in the photos of your patient.)
I assume you’ve ruled out onychomycosis with negative culture studies. (I recall sending one of my kids to a local dermatologist, who treated him empirically with oral griseofulvin for six weeks—with no clinical response.)
Rovbert Shapiro, M.D.: Onychomatrixoma Onychopapilloma
ReplyDeleteOnychocytic matricoma
Could also be neurofibroma, digital fibroma, digital fibrokeratoma, angiofibroma. Probably warrants a biopsy. May be worthwhile to do imaging prior to surgery. Ultrasound first , then consider MRI better for soft tissue than CT and avoids radiation of CT. Definitely bc it’s painful surgery is indicated. Need to make sure whoever does the surgery they do NOT do general anesthesia. Local digital block. Limit or avoid tourniquet time.
Doug Johnson, M.D. Looks like it was traumatic and will likely be permanent. Sorry.
ReplyDeleteA pediatric podiatrist wrote: Thanks for reaching out regarding this complex condition. Unfortunately, most of these pediatric nail dystrophy cases have limited "cures". I typically recommend using kerasol to soften the nail plates and a nail file to decrease the thickness of the nail. Once the child is older, some elect for a permanent matrixectomy.
ReplyDeleteAdam Rubin, M.D., U Penn: Looks like a combination of hallux valgus interphalangeous, nail malalignment, and the disappearing nail bed. Needs an x ray to investigate for any underlying bone lesion at the toe and also other bone malalignment problems
ReplyDeleteRegular use of Urea 10% plus lactic acid 10% cream / ointment will help to soften the nail and reduce the pain.
ReplyDeleteLisa Hochman: Do you think that he as a subungual Koenen's tumor?
ReplyDelete