Familial Leukodermic Darier Disease with Faun Tail Nevus in a Female Child - An Uncommmon Coexistence.

Sir,

An 8-year-old female child, a product of a non-consanguineous marriage presented with reddish-brown scaly rough discrete and grouped papules on face [Figure 1a] and plane topped papules on the dorsum of hands [Figure 1b] and feet (acrokeratosis verruciformis of hopf), which developed insidiously over a period of three years. Multiple discrete hypopigmented confetti-like macules were noted over the trunk [Figure 1c]. Multiple pits were seen on palms [Figure 2a] and soles [Figure 2b] and ink prints of fingers [Figure 2c] and palms demonstrated interruptions to the print pattern. Distal nail plate splitting and V-shaped notches were noted in few finger and toenails. Mucosae and hair were normal. On further examination, a 15 × 25 cms lozenge-shaped area of hypertrichosis with coarse dark terminal hairs of varying length over the lumbosacral region was seen [Figure 3a], which happened to be present since birth. The skin of the area was normal. There was no history of back pain, urinary incontinence, paresthesia, or weakness of muscles of lower limbs. Past medical history including developmental milestones was normal. There was a significant family history of the mother being a case of leukodermic variant of Darier disease (DD) [Figure 4a and b]. Neurological and other systemic examinations were normal. Routine laboratory investigations were within normal limits. Histopathological examination from a papule on the face and hypopigmented confetti-like macule over the trunk revealed suprabasilar cleft with acantholytic cells [Figures 5a and 6a] and corps ronds [Figures 5b and 6b]. Based on the above findings, idiopathic guttate hypomelanosis and other causes of guttate leukoderma were excluded. The radiograph of the lumbosacral spine was normal. MRI of the lumbosacral spine showed tethering of cord with syrinx [Figure 3b]. A diagnosis of familial leukodermic DD with faun tail nevus (FTN) was made. The child was advised regular follow-up and repeat MRI after one year and was put on topical retinoids and oral vitamin A.

Figure 1

(a) Reddish-brown scaly rough discrete and grouped papules on face, (b) plane topped papules on dorsum of hand and (c) multiple discrete hypopigmented confetti like macules over the trunk

Figure 2

Multiple pits over (a) palms, (b) soles and (c) ink print of right thumb demonstrating interruptions to the print pattern

Figure 3

(a) Lozenge shaped area of hypertrichosis with coarse dark terminal hairs of varying length over the lumbosacral region, (b) MRI of lumbosacral spine showing tethering of cord (blue arrow) with syrinx (yellow arrow)

Figure 4

(a) Multiple discrete and confluent rough, greasy, reddish-brown papules over face and neck, (b) multiple discrete hypopigmented confetti like macules over the trunk

Figure 5

Histopathological examination of a papule on face showing (a) suprabasilar cleft with acantholytic cells (H and E, 4×) and (b) corps ronds (H and E, 40×)

Figure 6

Histopathology of a hypopigmented macule over the trunk disclosing (a) suprabasilar cleft with acantholytic cells (H and E, 4×) and (b) corps ronds (H and E, 40×)

Guttate leukoderma in association with DD was first described by Goodall and Richmond in 1965.[1] Since then, about 20 odd cases have been reported in the world literature.[2] Zosteriform or linear, cornifying, vesiculobullous, isolated acral hemorrhagic, acrokeratosis verruciformis of Hopf, comedonal and hypopigmented or leukodermic macules are rare morphological variants of DD. The last one was seen in our case. The etiopathogenesis of leukodermic macules has not been well understood. According to the recent hypothesis, faulty keratinization interfering with melanosome transfer and an overall disruption of the “epidermal melanin unit” may contribute to this strange focal, macular depigmentation of DD.[3]

FTN is a posterior midline cutaneous marker for underlying spinal abnormalities like spinal dysraphism. Failure of the caudal neuropore to close at the end of the fourth week of intrauterine life results in neural tube defects. FTN is known to be associated with diastematomyelia, meningocele, myelomeningocele, myeloschisis, occult spina bifida, diplomyelia, tethered conus, intraspinal lipoma, lipomyelomeningocele, and dermoid cyst.[4] Patients with FTN must undergo a neurological and radiological assessment as this condition may be associated with underlying spinal dysraphism leading to debilitating symptoms, such as back pain or urinary incontinence, thus hampering the patient's quality of life.[5] In occult cases of dysraphism, except for cosmetic disfigurement, treatment is rarely required for tethered cord or spinal instability.

To the best of our knowledge, this is the first reported co-existence of these two unrelated entities in literature.

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

Nil.

Conflicts of interest

There are no conflicts of interest.