Juvenile Dermatomyositis With Rare Cutaneous Manifestation: Generalised Hypertrichosis

Abstract

Juvenile dermatomyositis (JDM) is a rare autoimmune disease characterised by inflammation of muscles and skin with extra muscular involvement of joints, heart, intestine, and liver. Pathogenesis of JDM is believed to be due to vasculopathy. Along with classic cutaneous features of JDM, rare findings include hypertrichosis, lipoatrophy, photosensitivity, bullous lesions, and hyperhidrosis. We present, here, a case of JDM with hypertrichosis as very few cases have been reported previously. Keywords: Juvenile dermatomyositis, Hypertrichosis, Autoimmune disease.

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1539
Open Access J Pak Med Assoc
Abstract
Juvenile dermatomyositis (JDM) is a rare autoimmune disease
characterised by inammation of muscles and skin with extra
muscular involvement of joints, heart, intestine, and liver.
Pathogenesis of JDM is believed to be due to vasculopathy. Along
with classic cutaneous features of JDM, rare ndings include
hypertrichosis, lipoatrophy, photosensitivity, bullous lesions, and
hyperhidrosis. We present, here, a case of JDM with hypertrichosis
as very few cases have been reported previously.
Keywords: Juvenile dermatomyositis, Hypertrichosis,
Autoimmune disease.
DOI: https://doi.org/10.47391/JPMA.7453
Submission completion date: 06-07-2022
Acceptance date: 11-02-2023
Introduction
Juvenile dermatomyositis (JDM) is a rare, childhood,
inammatory myopathy presenting with proximal muscle
weakness and cutaneous manifestation, having a range of
skin rashes, ulcers, and pigmental and hair problems.1The
approximate prevalence of JDM is 2 to 4 per 1,000,000
children per annum in the United States.2Moreover, hair
issues related to JDM can vary from hair loss to
hypertrichosis. Hypertrichosis, is a disorder of hair growth
characterised by excessive hair and if involving the whole
body, termed as generalised hypertrichosis.3Keeping in
mind the rarity of such a co-nding,4this case report will
focus on generalised hypertrichosis in a child with JDM.
Case Report
A two-year-old girl, from Kohat, came to the dermatology
unit, Lady Reading Hospital, Peshawar, on November 15,
2021, presenting with a three-month history of generalised
dusky, erythematous to violaceous plaques with noticeable
swelling over eyes, face, knees, and acral body parts, along
with intermittent low-grade fever. In addition, generalised
hypertrichosis with hyperpigmentation and inability to
walk during the past two months was reported. Twenty
days back, multiple ulcers appeared on her neck, axillary,
and groin region (Figure). She had a past medical history
signicant for measles and pneumonia in the previous year.
As for her birth, it was an uneventful normal vaginal
delivery with all developmental milestones achieved till the
age of 18 months. There is no signicant family history of
delayed walking, myopathies, or similar rash. Her previous
medical records showed use of topical steroids for three
months. She had no complaint of cough, wheeze, central
or peripheral cyanosis, joint pain, or any difficulty in
swallowing and breathing.
Upon general physical examination, she was running a
high-grade fever of 101 Fahrenheit (F) with the rest of the
examination being unremarkable. As for cutaneous
examination, there was signicant periorbital erythema
with excessive hair growth and hyperpigmentation on the
face and body. Periungual erythema and poikilodermatous
changes, such as hypo/hyperpigmentation, telangiectasias,
and atrophy, were observed in the upper truncal area.
Ulcerative lesions were also noted around the neck, axillary,
and groin region due to vasculopathy.
Musculoskeletal examination revealed that power in all
four limbs was reduced to 3/5, muscle tenderness to touch
was appreciable but deep tendon reexes were normal and
no visible joint deformity, muscle atrophy, or calcication
could be seen.
CASE REPORT
Juvenile dermatomyositis with rare cutaneous manifestation: generalised
hypertrichosis: A case report
Maham Kayani1, Elma Khalil2, Javeria Sultan3, Farah Sagheer4
1,2Department of Medicine, Medical Teaching Institute, Lady Reading Hospital,
Peshawar, Pakistan; 3,4Department of Dermatology, Medical Teaching Institute,
Lady Reading Hospital, Peshawar, Pakistan.
Correspondence: Elma Khalil. e-mail: elmasalahuddin5@gmail.com
ORCID ID. 0009-0002-8268-0662
Figure: Generalised Hypertrichosis with Juvenile Dermatomyositis-Heliotrope rash,
Poikilodermatous skin changes, Periungual erythema and Gottron’s papules.

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Vol. 73, No. 7, July 2023 Open Access
A newborn with coffin-siris syndrome
Blood Investigations showed raised total leukocyte count
(TLC) and muscle enzymes (Serum creatinine kinase and
Lactate dehydrogenase) with low haemoglobin levels,
whereas urine routine examination, serum albumin,
calcium, potassium, magnesium, zinc, vitamin-D, liver, and
kidney function tests were normal (Table).
Autoimmune screening was positive for anti-nuclear
antibodies, whereas specic autoantibodies, including anti-
Mi-2, anti-ARS, anti-NXP2, anti-SAE anti-TIF1-gamma,
anti-MDA5, were not done due to unavailability of tests at
the hospital and poor socioeconomic status of the patient’s
family. Furthermore, electromyography (EMG) was
suggestive of myopathy. Imaging tests such as muscle MRI
was also supportive of the diagnosis.
Based on Bohan and Peter criteria,5she was diagnosed with
juvenile dermatomyositis, as she met four out of the ve
components, such as proximal muscle weakness, elevation
of muscle enzymes, typical cutaneous changes, muscle MRI
and EMG ndings. It also met the updated criteria of the
European League Against Rheumatism/American College
of Rheumatology (EULAR/ ACR).6
After the conrmation of diagnosis, she was advised bed
rest, sun protection, and hydration. Meanwhile, she was
prescribed intravenous antibiotics and antipyretics
followed by pulse steroid therapy for three days that was
later changed to oral Prednisolone and intravenous
DMARD (Ciclosporin).1She responded very well to the
treatment and showed visible improvement in overall
mood, and ability to walk with the reduction in body
swelling. Furthermore, the parents were very pleased with
their child's response to treatment and provided us with a
written consent to share this rare co-nding to help future
clinicians.
Discussion
The term Dermatomyositis was rst used in 1891 by
Unverricht7for a condition that represented features of
polymyositis with cutaneous manifestation. Juvenile
dermatomyositis (JDM) is a subcategory of
dermatomyositis that presents in childhood involving
inammatory changes in the skin, muscle, heart, joints, and
gastrointestinal tract. The age group for this condition falls
under 16 years, with the female population having a higher
risk.8
JDM can present with a range of cutaneous features among
which heliotrope rash, periorbital oedema, and periungual
telangiectasias are considered characteristic ndings.9An
identical violet rash with periorbital oedema and
telangiectasias was seen in our patient. Skin rash appears
in the early course of the disease in roughly two-thirds of
the patients followed by muscle involvement. In addition
to other diagnostic features, erythematous, and
poikilodermatous lesions appear in the “shawl” or “V”
pattern.10 Vasculitic ulcers seen in JDM can involve exural
areas such as the axilla, groin, elbow, and knee.11 Similar
ndings were obtained on examination of our patient.
Her hands had violaceous plaques over extensor surfaces
of the metacarpophalangeal and distal interphalangeal
joints with periungual erythema and prominent swelling,
consistent with the pathognomonic Gottron's papules that
occur in 70% of dermatomyositis.1Proximal muscle
weakness often presents itself in JDM with a positive
Gower’s sign that requires pushing oneself up from prone
position. Our patient had difficulty in standing and
independent sitting.
JDM can be diagnosed clinically based on muscle weakness
and characteristic rash in a child, but our patient was
subjected to Bohan and Peter’s criteria 19755for which she
had four out of ve features that labelled her as a denitive
case of JDM.
Keeping in consideration the unusual cutaneous ndings
of this rare disease, hypertrichosis is the least reported one
with no literature available up to 1994.4Hypertrichosis is
dened as excessive body hair that is further from the
normal variations and affects parts that are androgen-
independent. It is often confused for hirsutism which is a
term used to describe excessive hair growth with male
pattern distribution in patients, mainly females due to
hyperandrogenism.12,13
It is classied into categories based on the age of
appearance (congenital or acquired), degree of skin
involvement (generalised or localised), site affected, follicle
type (lanugo, vellous, and terminal) and whether it is an
isolated disorder or associated with other conditions.
Congenital hypertrichosis, is a rare condition noted at birth
that can present as an isolated skin anomaly or a feature of
another disorder, whereas acquired hypertrichosis is more
common, presenting after birth secondary to a range of
Table: Complete Blood Count and Serum Enzymes.
Investigations Results Normal ranges
White blood cell count 16.3x10.e3/µl 4-11x10.e3/µl
Haemoglobin level 8.75 g/dL 12-16g/dl
Haematocrit 28.7% 42%-54%
MCHC 30.5g/dL 33.4–35.5g/dL
MCV 53.9  80–100 
Platelet count 574x 10.e3/µl 150-450 x 10.e3/µl
Serum lactate dehydrogenase 549U/L. 240-480U/L
Serum creatinine phosphokinase 189U/L 26-170U/L
MCHC: mean corpuscular haemoglobin concentration, MCV: mean corpuscular volume,
µl: microlitre, dL: decilitre : femtolitre, U/L: units per litre.

causes, such as malnutrition, drugs, iatrogenic, prepubertal,
endocrine, and metabolic disorders, malignancies,
autoimmune-cutaneous, and infectious conditions.14
In our case, the patient had dark pigmented vellus hair
covering her entire body, predominately her forehead,
cheeks, arms, and legs that became noticeable in two
months' time putting her under the category of
generalised acquired hypertrichosis.
As mentioned earlier, generalised acquired hypertrichosis
has a variety of causes that needs to be excluded to identify
the causative factor to plan its management. Patients may
have to deal with difficulty in assessment as the
characteristics are diverse and can lead to delay in the
establishment of diagnosis.15 Therefore, timely
identication of such conditions helps to determine the
need for early interventions, screening for malignancies,
cutaneous diseases, endocrine and metabolic disorders
along with counselling of patients and their family
members.
This case report highlights the rare nding of generalised
acquired hypertrichosis in a patient of JDM to encourage
development of protocols and investigations to be done
by future clinicians in making the most appropriate
decisions when encountering such a case.
Conclusion
This study shows that generalised acquired hypertrichosis,
despite being a rare manifestation of JDM, may be more
frequent than reported. Most importantly, such a co-
nding can be seen and does not require excessive
investigations to rule out other causes of hypertrichosis in
a patient of JDM. This case report reinforces a need for
further studies, reporting rare ndings, establishing
protocols, good decision making, and training for the
identication and management of hypertrichosis and its
associated disorders.
Acknowledgement: We would like to show gratitude to
the parents of this young child for allowing us to share her
case to bring about awareness. However, it would not have
been possible without the help of all members of the
dermatology unit, MTI-LRH extending special thanks to Dr
Sahibzada Mahmood Noor, Dr Mohammad Majid Paracha,
Dr Abdul Qayum Khan and Dr Farsheed Fateh for their
insight, guidance and supervision.
Disclaimer: All authors conrm and declare that the data
has not been published in any journal nor been presented
in any conference.
Conict of interest: None.
Funding disclosure: None.
References
1. Rook A, Barker J, Bleiker T, Chalmers R, Creamer D, Griffiths C. Rook's
textbook of dermatology 8th ed. Chichester, West Sussex: Wiley
Blackwell, 2010; pp-53.9-53.12.
2. Mendez EP, Lipton R, Ramsey-Goldman R, Roettcher P, Bowyer S,
Dyer A, et al. NIAMS Juvenile DM Registry Physician Referral Group.
US incidence of juvenile dermatomyositis, 1995-1998: results from
the National Institute of Arthritis and Musculoskeletal and Skin
Diseases Registry. Arthritis Rheum. 2003; 49:300-5. doi: 10.1002/art.
11122.
3. Wendelin DS, Pope DN, Mallory SB. Hypertrichosis. J Am Acad
Dermatol. 2003; 48:161-79. doi: 10.1067/mjd.2003.100.
4. Pope DN, Strimling RB, Mallory SB. Hypertrichosis in juvenile
dermatomyositis. J Am Acad Dermatol. 1994; 31:383-7. doi: 10.1016/
s0190-9622(08)80361-1.
5. Bohan A, Peter JB. Polymyositis and dermatomyositis. N Engl J Med.
1975; 292:344-7. doi: 10.1056/NEJM197502132920706.
6. Oldroyd A, Chinoy H. Recent developments in classication criteria
and diagnosis guidelines for idiopathic inammatory myopathies.
Curr Opin Rheumatol. 2018; 30:606-13. doi: 10.1097/BOR.
0000000000000549.
7. Bronner IM, Linssen WH, van der Meulen MF, Hoogendijk JE, de Visser
M. Polymyositis: an ongoing discussion about a disease entity. Arch
Neurol. 2004; 61:132-5. doi: 10.1001/archneur.61.1.132.
8. Ishaque S, Ahmed S, Ali R, Minhas K. Juvenile dermatomyositis. J Coll
Physicians Surg Pak. 2011; 21:434-6.
9. Kovacs SO, Kovacs SC. Dermatomyositis. J Am Acad Dermatol. 1998;
39:899-920. doi: 10.1016/s0190-9622(98)70263-4.
10. Symmons DP, Sills JA, Davis SM. The incidence of juvenile
dermatomyositis: results from a nation-wide study. Br J Rheumatol.
1995; 34:732-6. doi: 10.1093/rheumatology/34.8.732.
11. Gupta A, Pilania RK, Prasad VD, Guleria S. Extensive skin ulcers in a
child with juvenile dermatomyositis. BMJ Case Rep. 2018;
2018:bcr2017222915. doi: 10.1136/bcr-2017-222915.
12. Saleh D, Yarrarapu SNS, Cook C. Hypertrichosis. In: Saleh D, Yarrarapu
SNS, Cook C. Treasure Island: Stat Pearls Publishing, 2022.
13. Buch J, Ranganath P. Approach to inherited hypertrichosis: A brief
review. Indian J Dermatol Venereol Leprol. 2021; 88:11-21. doi:
10.25259/IJDVL_629_20.
14. Pavone P, Praticò AD, Falsaperla R, Ruggieri M, Zollino M, Corsello G,
Neri G, et al. Congenital generalized hypertrichosis: the skin as a clue
to complex malformation syndromes. Ital J Paediatr. 2015; 41:55. doi:
10.1186/s13052-015-0161-3.
15. Carneiro VF, Barbosa MC, Martelli DRB, Bonan PR, Aguiar MJB, Martelli
Júnior H. A review of genetic syndromes associated with
hypertrichosis. Rev Assoc Med Bras. 2021; 67:1508-14. doi:
10.1590/1806-9282.20210666.
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Open Access J Pak Med Assoc
L. Cui, X. Jin