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.

 

Leg Ulcer

The patient is an 81 y.o. woman with a 4 year history of an ulcer of her right leg.  She has received treatments from a variety of specialists during this time and the ulcer was unsuccessfully grafted ~ 3 months ago.  The patient is an asthenic vegetarian but takes multivitamins and there is no evidence of anemia. Her arterial circulation is normal per doppler studies.  She is taking doxycline because of purulence but a culture was not done.

O/E:  There is a 12 x 8 shallow ulcer over the lower right leg.  The foot is warm and a dorsalis pedis pulse was present.  There is an early champagne bottle deformity and lymphedema of the affected leg..

Clinical Photos:

Impression: Large venous leg ulcer.

Discussion: The patient, who lives independently with her husband, has mild to moderate cognitive decline and does not seem overly concerned about the ulcer.  The ulcer continues to advance in spite of medical attention.  Without intensive care, it is unlikely that such a large ulcer will heal.  Her case is presented for discussion and therapeutic suggestions.

References:

1. Alavi A et al. What’s new: Management of venous leg ulcers: Treating venous leg ulcers. J Am Acad Dermatol. 2016 Apr;74(4):643-64

2. Alavi A e.al. What's new: Management of venous leg ulcers: Approach to venous leg ulcers. J Am Acad Dermatol. 2016 Apr;74(4):627-40. Alavi A. Et al. J Am Acad Dermatol. 2016 Apr;74(4):627-40; quiz 641-2.

3. Chunhu Shi, et. al. Compression bandages or stockings versus no compression for treating venous leg ulcer.  Meta-AnalysisCochrane Database Systematic Reviews. 2021 Jul 26;7(7):CD013397. Free PMC article

A Case for Palliative Dermatology

The patient is an 87 yo woman who lives with her grandson in a small Kentucky hill town many miles from a medical center.  Two years ago, a squamous cell carcinoma was excised and grafted from her scalp.  It has recurred and is now a management problem.  The patient has a moderate dementia but is happy and comfortable at home with a large supportive family.  She has no life-threatening medical problems other than this lesion.

The tumor was debulked, cultured and a Xeroform dressing applied.  Her daughter-in-law was instructed how to change the dressings.

Post-op appearance:

Pathology showed a moderately differentiated squamous cell carcinoma extending to the base of the specimen.

Her family wants to do as little as possible with the goal of supporting her quality of life.

Palliative care in dermatology has only recently  been getting attention.  

Some options for this woman include
1. Intralesional 5 Fluorouracil or topical 5FU
2. Short Course Radiotherapy (1)
3. Palliative Mohs surgery (2)

Note: On 10.6.23 the patient had micrographic surgery.  This showed squamous cell carcinoma ectending to the calvarium and invading it.  In addition, there was infiltrating basal cell carcinoma at the periphery.  Chemotherapy with pembrolizumab may help some healthier patients, but is not practablew for this woman.  Palliative care is appropriate, but guidelines are limited.
Clinical photo 1 week afte4r Mohs micrographic surgery:

 Your thoughts will be helpful.

Post-Script:  The patient stayed home for two months after we saw her.  We arranged for a visiting nurse to come and do dressing changes.  She was comfortable and required no pain meds.  Then she had a seizure, was admitted to hospital and died two days later.  The tumor had eroded through her skull and she had a terminal event.  The palliative approach assured that she spent her last few months at home without being subjected to worthless and time-consuming procedures.

References:
1. Milena F et. al.  A Short course Accelerated RadiatiON therapy (SHARON) dose-escalation trial in older adults head and neck non-melanoma skin cancer. Br. J Radiol. 2022 Jun 1;95(1134):20211347.

2. Noriaki Nakai et al. Clinical usefulness of Mohs' chemosurgery for palliative purposes in patients with cutaneous squamous cell carcinoma with risk factors or without indication for surgery: three case report. J Dermatol. 2015 Apr;42(4):405-7.

3.  Leah L Thompson et. al. Palliative care in dermatology: A clinical primer, review of the literature, and needs assessment. J Am Acad Dermatol. 2021 Sep;85(3):708-717. J Am Acad Dermatol. 2021 Sep;85(3):708-717.

4. Fidanzi C, Davini G, Dini V, et al. Palliative management of a recurrent destructive cutaneous squamous cell carcinoma of the scalp with brain exposure. Wounds. 2022;34(1):E7-E9. PMID 35119380
(Full Text)

 

ABOUT VGRD

Founded in 2000, Virtual Grand Rounds in Dermatology (VGRD) is a gathering place for dermatologists the world over to meet with one another and share interesting and/or challenging patients. In addition, we welcome all other health care practitioners with an interest in cutaneous disorders.  One may want to ask a question about diagnosis or therapy, present an interesting clinical photo or post a photomicrograph. We are a group of clinical and academic dermatologists who believe that web-based teledermatology can be both personally and professionally enriching.

Digital photography makes it possible to post clinical and microscopic images with ease. There are a dizzying number of cameras to choose from. The site creators will help you with advice here if you want.  In the past few years, smart phones have improved to the point where their images are more than acceptable.

Even if one lives in a city with a major medical center it is often difficult to get one's patients to Grand Rounds. And if one does, the turnout and discussion may be disappointing. VGRD is always available. You can post a message at 6:00 p.m. in Boston, Henry Foong may see it at 6:00 a.m. in Ipoh, Malaysia as he sits down at his home computer. Often, you will have received a few suggestions or comments when you log on the next morning.

VGRD has been a virtual consultative and collegial community for over 15 years. John Halle, the 16th Century English physician/poet, penned these perceptive words about the consultation in a long forgotten tract:

    When thou arte callde at anye time,

    A patient to see:

    And dost perceave the cure to grate,

    And ponderous for thee:

    See that thou laye disdeyne aside,

    And pryde of thyne own skyll:

    And think no shame counsell to take,

    But rather wyth good wyll.

    Get one or two of experte men,

    To helpe thee in that neede;

    To make them partakers wyth thee

    In that work to procede....

Halle's words guide us as we gather 500 years later in a consultative community the likes of which he probably could not have fathomed. So, let us "laye disdeyne aside,/ And pryde of [our] own skyll:/ And think no shame counsell to take,/ But rather wyth good wyll" join us in this global community of peers to help our patients and educate each other and ourselves.

Dodging Scalpels

Presented by:
Dorinda Johnstone, M.D., Dermatologist
Scottsdale, Arizona

The patient is a vibrant, independent-living nonogenarian who saw a mid-level provider at a plastic surgery office for a skin screening. A lesion was noted on her right nasolabial fold and a shave biopsy was taken (expand image to see "x"). Also, a few actinic keratoses were also treated with liquid nitrogen.
The pathologist reported a superficial squamous cell carcinoma and the patient was scheduled for excision by the mid-level professional’s plastic surgeon employer.
The patient was anxious about the surgery and sought the opinion of a DJ, a dermatologist she had seen in the past.

"x" marks center of the lesion that was biopsied

DJ did not feel the lesion needed urgent treatment. She got a copy the path report and saw that it had been signed out by a general pathologist. She asked a dermatopathologist colleague of the general pathologist’s to take a look at the slide. The dermatopathologist felt the legion was an actinic keratosis.

The patient was called and the revised diagnosis who is related. She expressed great relief. She will make a follow up in three months to see the dermatologist and decide whether anything needs to be done.

Take a messages:
1. Some mid-level providers working for high-volume surgical and dermatology practices serve as feeders for big-ticket procedures to their employers.
2. These surgeons and dermatologists rarely question biopsy reports.
3. It can be important to have the pathology reviewed by a board certified dermatopathologist.
4. The dermatologist who saw this patient tries to apply a palliative approach to elderly patients to spare them unnecessary procedures.
5. As long as we have fee-for-service medical care this kind of comedy will continue to happen.

IT’S A JUNGLE OUT THERE.

A Thing of Beauty

 Dermatoscopy has profoundly changed the practice of dermatology.  We have learned a lot and there is much more to discover.  A 30 yo woman was seen recently for a changing lesion on her abdomen.  The dermatoscopic picture looked benign, but it was unusual.

Clinically, this looked like seborrheic keratosis, but the pattern was unusual.  A biopsy was done to reassure the patient and so that we could learn something.

Later, we learned that she was using a self-tanner.  The clods seen in the image above represent the chemical in the horn cysts.  A similar pattern has been reported from hair dye.  The reference is the only one we could locate on PubMed.

The biopsy confirmed that this was a seborrheic keratosis,  No artifacts were seen, but they were probably washed out in processing,

Reference:
Sidharth Sonthalia, Pankaj Tiwary. Colored dots on trichoscopy-beware of artifacts. J Am Acad Dermatol. 2019 Jun;80(6):e143-e144. PMID: 30529542

A Photosensitive Eruption in a College Student

 Presented by Makayla Powers, PA

HPI: This 20-year-old college student presented for 

evaluation of a facial eruption. She states that 

about one to two months ago, she developed a rash on

the face. And was evaluated at the health center and 

she was given topical steroid cream. She used this for 

about 2 weeks an noted improvement, but when she 

stopped she it recurred and was worse. At the 

same time,  she developed a vesicular, erythematous 

rash on the dorsal hands. Anamnesis reveals last summer
she had a bullous rash on the lower extremities that was
treated with antibiotics.

No history muscle pain or weakness or other constitutional

 symptoms. There is no significant family medical history. 

Patient was born in Cambodia and moved to Louisiana 

with her family when she was 15 years old. The eruption 

on the face and hands has caused her significant discomfort 

and she has difficulty sleeping. 

 

Physical exam: On exam, patient has an erythematous,

 crusted eruption on the lower half of the face on the cheeks,

 lips, perioral area, chin and neck. Her dorsal hands show

 erythematous crusted plaques over the joints of a few digits 

suspicious for Gottron papules.

 

Photos:

Summer 2022

 

 April 2023

Subtle Nail Fold Image

Assessment and plan: We are concerned she has 

dermatomyositis and ordered   CK, ANA, CBC, CMP, 

TSH, ESR, CRP. Pending results we prescribed 

tacrolimus for her face as she stated she would like to 

avoid oral steroids. 

 

Update: When seen 3 days later the eruption on her face
and hands was improved. She had blood work done
and early results show an elevated CK of 3030 (nl  < 145)
and ESR 39 and a negative ANA.  (She is not a gym rat)
Her hemogram and chemistries age normal. CRP. 

The lab tests with the physical findings are suggestive of
dermatomyositis. We discussed that with her and
she agreed to start oral prednisone. She will avoid
sun exposure.  It’s the end of the semester and final
exams are looming,  We have located an academic
dermatologist near her home and further workup will
be done when she returns there for the summer.  We did
not want to impact her life at the end of her academic
year.

Note: CK levels in dermatomyositis can range from
normal to >50,000.

Diagnosis:  At this time, we favor dermatomyositis; but she
may have an undifferentiated collagen vascular disease or
some form of photosensitivity.  We feel that a definitive
work-up can wait until she can be seen at a center with
more expertise than we have.

References:
1. Morgan DJ, et. al. Diagnostic Stewardship to Prevent Diagnostic Error. JAMA. 2023 Apr 18;329(15):1255-1256
Diagnostic stewardship optimizes testing to reduce diagnostic error and improve diagnosis.1,2 With better diagnosis, more targeted and effective therapy can be initiated. Interventions used for diagnostic stewardship are built into the clinical workflow and often use methods from behavioral economics to nudge clinicians toward better decisions. Changes may be made to diagnostic testing at the steps of test ordering, test performance, or results reporting.

2.  Sontheimer RD, Dermatomyositis: an overview of recent progress with emphasis on dermatologic aspects. Dermatol Clin. 2002 Jul;20(3):387-408. PMID

3. Mosca M. The diagnosis and classification of undifferentiated connective tissue diseases. J Autoimmun. 2014 Feb-Mar;48-49:50-2.  PubMed (This reference is put in for interest)

Your thoughts will help to guide us.

Thank you,

 

 

American Health Care's Two Tiered System

The patient is a 45-year-old uninsured day laborer in a remote area of Southern California.  He has a slowly growing tumor  of his right malar eminence.  In our clinics he would have a biopsy and, after that, probably Mohs micrographic surgery.  However, that is not this man's reality.

Are there any clinics in California or Arizona that would see such a patient?  Your thoughts will be helpful.

Please email David Elpern with suggestions.

Mystery Plaque

Presented by Makayla Powers, PA 

 

History: The patient is a 37 year old man who 

presents for an eruption on the right leg. This 

developed about 8 months ago as a small area 

of erythema. He was initially evaluated in the 

ER and was prescribed antibiotics. Since then 

he has been on numerous rounds of antibiotics 

and he is currently on augmentin. At one point, 

his right knee became swollen and he reports

fluid was drained from it in the hospital. The 

eruption has continued to spread and has become 

painful when palpated. He has been seeing a provider 

at the wound care clinic who usually cleans and 

dresses the area, however the eruption is not 

improving. 

Physical exam: On exam, patient has an erythematous 
plaque on the right lower leg that measures about 
12 cm x 6 cm and is located just below the knee.
There are a few areas that are weeping a yellow fluid. 

A bacterial culture and biopsy was done. 

Wound culture showed Coagulase Positive Staph MRSA type.

Pathology.
Photomicrographs courtesy of David Jones, MD.  Berkshire Medical Center.  Note Reference # 1.

First Biopsy 4.17.23

Repeat Biopsy 4/24/23 shows rare spores consistent with Blastomycosis (PAS stain)

Enlarge image below and look for the arrow.

Diagnosis:  Cutaneous Blastomycosis. 
We plan to have patient get a CXR,

 Your thoughts will be appreciated and we will update 
this presentation as new findings emerge. 

References

1. Blastomycosis in the Capital District of New York State: A Newly Identified Emerging Endemic Area. Adam Austin  David M Jones  et. al. Am J Med. 2021 Feb;134(2):e101-e108. PMID: 33091391
Abstract
Background: The Centers for Disease Control and Prevention and New York State Department of Health recently identified the Capital District of New York (CDNY) as an emerging endemic area for blastomycosis. However, no clinical or epidemiological description of blastomycosis in the CDNY has been published.
Methods: We performed a retrospective analysis of blastomycosis cases at Albany Medical Center (AMC) and Albany Stratton Veterans Affairs Medical Center (VAMC) from January 1, 2000, through June 1, 2019. Patients were identified via an institution-approved informatics system at the hospital's microbiology laboratory.
Results: We identified 20 patients diagnosed with blastomycosis over the past 2 decades. There was a nearly 9-fold increase in the annual number of cases in 2016-2019 compared with 2000-2015. The majority of patients resided in the CDNY (90%), and 65% lived within the Mohawk River valley. Most cases (85%) were assumed to be malignancies or non-mycotic infections prior to diagnosis, with median time between presentation and diagnosis of 53 days.
Conclusions: Our data support recent reports that blastomycosis is an emerging disease in the CDNY. Most patients were misdiagnosed as malignancy or non-mycotic infection, which led to treatment delays.

 

2. Ross JJ, et. al. Blastomycosis in New England: 5 Cases and a Review. Open Forum Infect Dis. 2023 Jan 20;10(1):ofad029 Jan.  Free PMCarticl
Abstract
The geographic range of blastomycosis is thought to include New England, but documentation is sparse. We report 5 cases of infection with Blastomyces dermatitidis that were likely acquired in New England between 2011 and 2021. Our experience suggests that chart coding for the diagnosis of blastomycosis is imprecise and that mandatory reporting might help resolve uncertainties about the prevalence and extent of blastomycosis.

 

3. Elena Gonzalez Caldito, Camila Antia, Vesna Petronic-Rosic. Cutaneous Blastomycosis. JAMA Dermatol. 2022 Sep 1;158(9):1064.

 

 

Paraneoplastic Rash Leading to Lymphoma Diagnosis

Presented by Elizabeth Miller, BSc and Brenda Dintiman, MD
DermUtopia, Fairfax, Virginia

History and physical:
This is a 75-year-old man who was referred to our practice by his allergist for a pruritic rash on the legs and arms. The patient reported that he had first developed a rash on his trunk in July of 2021 following three courses of amoxicillin. At that time, it was described as bright red to purplish in color, with associated fluid-filled vesicles and pruritus. The rash was treated with a topical steroid cream and resolved within 10 days.
In February 2022, the patient began to develop purpuric, pruritic patches and urticarial wheals on his ankles, calves and forearms that progressively worsened and seemed to be aggravated by heat and friction from clothing. The patient had tried multiple courses of topical steroids without response. He was given several short courses of oral prednisone by his primary care doctor and although the rash resolved while he was on prednisone, it would return and progressively worsen as soon as the course was complete. He denied any constitutional symptoms such as fever, chills, cough, lymphadenopathy, night sweats, abdominal pain, or weight loss.

Assessment:

The patient initially presented to our practice with a subtle erythematous eruption on the arms and legs and evidence of post-inflammatory pigmentation. Subsequently, he returned with a worsening violaeous, painful rash on his lower extremities and red indurated nodules on his arms just three days after his first visit:

Workup:

The patient’s differential included drug reaction, vasculitis, hypereosinophilic syndrome, bullous pemphigoid, or lymphoproliferative syndrome. Biopsies were taken from active lesions, and lab work including CBC, CMP, SPEP, RF, ANA, and bullous pemphigoid antigen was ordered. He was also referred to rheumatology and oncology for further investigations.

Results:

Lab results were remarkable for eosinophilia (7.2%), elevated C-reactive protein (5.2), and a highly positive rheumatoid factor (>1000). The patient had a negative ANA, negative bullous pemphigoid antigen, and a normal SPEP.

Pathology:

4x. The histologic sections show a superficial and deep infiltrate that extends into subcutis and includes hemorrhage within the dermis and subcutis.

20x superficial dermis. Within the upper dermis, the infiltrate is seen to include numerous lymphocytes, neutrophils, and eosinophils. Hemorrhage is present. No leukocytoclastic vasculitis is identified.

Diagnosis and Treatment:
The patient’s primary care doctor ordered a CT of the abdomen which showed retroperitoneal lymphadenopathy in the upper pelvis. Subsequently, a PET scan showed widespread low-grade adenopathy above and below the diaphragm.

The patient underwent a bone marrow biopsy and inguinal lymph node biopsy, which were consistent with CD5-negative mantle cell lymphoma (MCL). He had stage IV disease. He was started on a course of rituxan for his lymphoma, and he was continued on systemic corticosteroids to manage his rash.

Discussion:
This case is an example of a patient with an indolent recurring skin eruption which required a multidisciplinary effort to correctly diagnose and manage. He had a negative workup by an allergist prior to being evaluated by dermatology and being referred to oncology and rheumatology. It is also interesting to note that he had few to no constitutional symptoms preceding his skin eruption and diagnosis with MCL.
One review of the literature estimates that only 2-10% of patients with MCL have cutaneous disease, most often caused by involvement of the lymphoma in the skin. This case, where biopsies did not show involvement of the lymphoma in the skin but rather suggested a paraneoplastic reaction, seems to be even more rare. We could only find only one similar case report in PubMed. In that case, therapy with rituximab was successful in treating the patient’s eruption.

References:

1. de Souza PK, Amorim RO, Sousa LS, Batista MD. Dermatological manifestations of hematologic neoplasms. Part I: secondary specific skin lesions. An Bras Dermatol. 2023;98(1):5-12. doi:10.1016/j.abd.2022.06.002

2. de Souza PK, Amorim RO, Sousa LS, Batista MD. Dermatological manifestations of hematologic neoplasms. Part II: nonspecific skin lesions/paraneoplastic diseases. An Bras Dermatol. 2023;98(2):141-158. doi:10.1016/j.abd.2022.08.005

3. Geropoulos G, Psarras K, Vlachaki E, et al. Cutaneous manifestations of mantle cell lymphoma: an extensive literature review. Acta Dermatovenerol Alp Pannonica Adriat. 2020;29(4):185-191.

4. Nemets A, Ronen M, Lugassy G. Chronic paraneoplastic cutaneous syndrome preceding an indolent variant of mantle cell lymphoma: favorable response to rituximab. Acta Haematol. 2006;115(1-2):113-116. doi:10.1159/000089477