|Year : 2018 | Volume
| Issue : 2 | Page : 151-153
Menkes kinky hair disease: Role of dermatologist
Bela Jaswantlal Shah, Ashish Jagati, Rutu Joshi
Department of Skin and VD, B. J. Medical College and Civil Hospital, Ahmedabad, Gujarat, India
|Date of Web Publication||26-Mar-2018|
Bela Jaswantlal Shah
Department of Skin and VD, Room No. 139, 1st Floor, Wing No. 3, OPD Building, Civil Hospital, Asarwa, Ahmedabad, Gujarat
Source of Support: None, Conflict of Interest: None
Menkes kinky hair disease is an X-linked recessive multisystem disorder which mainly involves a central nervous system and usually presents in early infancy. The underlying defect is in copper metabolism leading to impaired function of copper-dependent enzymes. Diagnosis is confirmed by low level of serum copper and serum ceruloplasmin. Classical disease is associated with poor prognosis. Hereby, we report a classical case of Menkes kinky hair disease with characteristic clinical as well as laboratory findings and radiological features. We are reporting this case because of its early presentation.
Keywords: Cutis laxa, Menkes disease, seizures
|How to cite this article:|
Shah BJ, Jagati A, Joshi R. Menkes kinky hair disease: Role of dermatologist. Indian J Paediatr Dermatol 2018;19:151-3
| Introduction|| |
Menkes kinky hair disease is an X-linked recessive multisystem disorder caused by disturbances of copper metabolism due to mutation of pATPase7 gene. The estimated prevalence of the disease is 1 in 100,000–1 in 250,000. Horizontal eyebrows, pudgy cheeks, and cupid's bow of the upper lip from the classical facies. The most common presenting feature is convulsions followed by gross truncal hypotonia, mental retardation, and progressive neurological deterioration.
Weak collagen tissues cause multiple skin folds and laxity. The most common and obvious finding are alopecia with light-colored sparse, fragile, and kinky hairs.
The musculoskeletal system is also involved and associated with osteopenic bone changes. Infant fails to thrive due to recurrent infections. Malnutrition is a common finding. The child usually dies within 3–4 years of age.
| Case Report|| |
A 1-month-old, Muslim male infant, coming from lower socioeconomic class, born out of consanguineous marriage, full-term uncomplicated delivery was admitted to the pediatric ward with a history of recurrent convulsions which was tonic-clonic in nature. He had repeated attacks of coryza and pneumonia with marked developmental delay. He was the only child in the family, and there was no significant family history. The patient was exclusively breastfed till now. There was no significant antenatal history or drug history during pregnancy.
The patient was referred by a pediatrician to our department as there was marked laxity of the skin. Clinically, we made a provisional diagnosis of cutis laxa.
Informed consent was taken from parents before taking clinical photographs.
On general examination, infant was conscious with fair skin tone.
Skin was lax, thin with multiple folds over the abdomen, and back with characteristic facial features of elongated face with large ears [Figure 1] and [Figure 2]. Scalp hairs were sparse, fussy, and silvery-gray [Figure 3]. Hairs of eyebrows and eyelashes were normal.
|Figure 2: Doughy skin over the abdomen with marked laxity. Multiple skin folds over bilateral thighs|
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Anthropometric measurement was 4.2 kg weight, 60 cm height, head circumference 42 cm, and chest circumference 32 cm. The infant was vitally stable.
Central nervous system examination revealed marked hypotonia with brisk deep tendon reflexes. Pupils were reactive to light bilaterally. Other systemic examinations were unremarkable.
On light microscopy of the scalp hair showed pili torti [Figure 4].
|Figure 4: On DPX mountant of scalp hair, pili torti is seen under light microscopy with ×20 resolution|
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With all these findings, a provisional diagnosis of Menkes kinky hair disorder was made, and to confirm the diagnosis, serum copper and serum ceruloplasmin levels were ordered. Serum copper and serum ceruloplasmin were 3–7 mcg/dl, respectively.
Urine analysis and other biochemical tests were noncontributory.
Chest X-ray and other joint X-rays were normal, but X-ray skull showed multiple wormian bones in relation to lambdoid suture [Figure 5].
Magnetic resonance imaging of skull showed bilateral subdural fluid collection with area of lamellar cortical necrosis and underlying brain parenchyma atrophy [Figure 6].
|Figure 6: Marked cortical atrophy over the left hemisphere with subdural fluid collection|
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With above findings, diagnosis of Menkes disease was confirmed.
| Discussion|| |
Menkes disease is a rare X-linked recessive neurodegenerative disease manifesting usually around 2–3 months of life with the prevalence rate of 1 in 100,000–1 in 250,000 live births. In our patient, the disease presentation is relatively early (within 1st month) than usual.
There is defective transport of dietary copper leading to low level of serum copper level and paradoxically tissue deposition of copper. The disease process is due to cuproenzyme deficiency such as lysyl oxidase, cytochrome C oxidase, and tyrosinase. This leads to tortuous cerebral artery, hypothermia, hypopigmentation of hair, and skin pallor, respectively.
Disease manifestation starts with developmental delay, failure to thrive, refractory seizure, progressive hypotonia, and characteristic hair and skin changes, all were classically seen in our patient.
Most common hair shaft abnormality in Menkes disease is pilli torti (180 twisted hairs on axis) with other hair shaft abnormalities such as trichorrhexis nodosa and monilethrix. DPX mountant showed pili torti hair shaft deformity in this case as well.
Intractable seizures are due to lysyl oxidase deficiency causing defective intracranial vessel formation. This leads to ineffective blood supply to brain causing tissue necrosis and atrophy. Major presenting symptom in this infant was seizures only.
Diagnosis is made by characteristic skin changes and examining hair shaft under light microscope. For further investigation, serum copper and ceruloplasmin levels are measured which is significantly low in classical form. Milder variant of Menkes disease includes occipital horn syndrome also known as an X-linked variant of cutis laxa.
The patient was treated with antibiotics for pneumonia and tablet phenytoin 20 mg/kg as a loading dose followed by tablet phenytoin 5 mg/kg 12 hourly for maintenance dose to control seizures by a pediatrician.
The patient is being followed up by both departments.
The infants presenting with convulsions/failure to thrive have multiple etiologies. Hence, critical evaluation is mandatory to arrive at a correct diagnosis. This infant who presented with convulsions and cutis laxa such as features, on further reevaluation, turned out to be a classical case of Menkes kinky hair syndrome.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Harrison MD, Dameron CT. Molecular mechanisms of copper metabolism and the role of the Menkes disease protein. J Biochem Mol Toxicol 1999;13:93-106.
Bolognia JJ, Jorizzo JL, Schaffer JV. Nutritional Disease, Textbook of Dermatology. 3rd ed., Vol. 1. Sec. 8, Ch. 51. Canada: Mosby/Elsevier, Imprint: Saunders; 2012. p. 748-50.
Kim D, Choi J, Han KM, Lee BH, Choi JH, Yoo HW, et al.
Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells. Stem Cell Res Ther 2015;6:160.
Culotte VC, Gitlin JD, Charles RS, Arthur LB, William SS, David V. The Molecular and Metabolic Bases of Inherited Disease. 8th
ed. New York: McGraw-Hill; 2001. p. 3105-26.
Koeller D. Metal metabolism disorder. In: Steiner RD, McIntosh N, Helms P, Smyth R, editors. Forfar and Arneil's Textbook of Pediatrics. 6th
ed. UK: Churchill Livingstone; 2003. p. 1190-1.
Kaler SG. Metabolic and molecular bases of Menkes disease and occipital horn syndrome. Pediatr Dev Pathol 1998;1:85-98.
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]