A CASE OF FAMILIAL CONGENITAL HYPERTRICHOSIS LANUGINOSA

Abstract

A female baby born by preterm delivery (30-32 weeks), born of a non-consanguinous marriage presented with increased presence of hair over her whole body since birth. Newborn care was given for prematurity and low birth weight at the neonatal intensive care unit for three weeks. The baby had a thick covering of smooth and fine hair at the time of birth, which began to shed after two weeks. Mother had gestational diabetes mellitus and was on insulin and oral hypoglycemic drugs. A similar clinical picture of increased hair growth was present in the mother and also in the previous sibling. In both of them the hair shedding started few weeks after birth and resolved completely.

Full text

www.ejpmr.com │ Vol 9, Issue 3, 2022. │ ISO 9001:2015 Certified Journal │
Kumaravel et al. European Journal of Pharmaceutical and Medical Research
333
A CASE OF FAMILIAL CONGENITAL HYPERTRICHOSIS LANUGINOSA
1Dr. M. Gowri, 2Dr. S. Amudhadevi, 3Dr. K. Selvaraju, 4*Dr. K. S. Kumaravel and 5Dr. G. Balaji
1Junior Resident in Pediatrics Govt Mohan KumaramangalamMedical College, Salem, Tamilnadu, India.
2,3Assistant Professor of Pediatrics Govt Mohan KumaramangalamMedical College, Salem, Tamilnadu, India.
4Professor of Pediatrics Govt Mohan KumaramangalamMedical College, Salem, Tamilnadu, India.
5Associate Professor of Dermatology Govt Mohan KumaramangalamMedical College, Salem, Tamilnadu, India.
Article Received on 22/01/2022 Article Revised on 12/02/2022 Article Accepted on 02/03/2022
CASE REPORT
A female baby born by preterm delivery (30-32 weeks),
born of a non-consanguinous marriage presented with
increased presence of hair over her whole body since
birth. Newborn care was given for prematurity and low
birth weight at the neonatal intensive care unit for three
weeks. The baby had a thick covering of smooth and fine
hair at the time of birth, which began to shed after two
weeks. Mother had gestational diabetes mellitus and was
on insulin and oral hypoglycemic drugs. A similar
clinical picture of increased hair growth was present in
the mother and also in the previous sibling. In both of
them the hair shedding started few weeks after birth and
resolved completely.
Cutaneous examination of the newborn baby revealed
soft, fine, black hair distributed over the face, eyebrows,
chest, abdomen, back, extensor aspect of both upper and
lower limbs (Fig: 1). The forehead was relatively hairy
and the growth was more abundant on the eyebrows and
eye lashes producing peculiar monkey facies (Fig 2). The
back showed more hair towards the midline, along the
spine. There was sparing of the palms and soles. Mucosa
and nails were normal. Oral examination showed
gingival hyperplasia. There were no signs of virilisation.
The picture was consistent with congenital hypertrichosis
lanuginosa. The routine haematological parameters and
17-hydroxy progesterone levels were normal. The
skeletal survey on x-ray was unremarkable and no bony
deformity was detected. Echocardiography was normal.
Ophthalmological examination was normal. Ear
examination was also normal. On follow up at 4 months
of age, the hypertrichosis in the back, face and extensor
aspect have resolved to a larger extent (Fig: 3).
Fig. 1: Picture of neonate with profuse hair
distributed over the entire back more towards the
midline and extensor aspects of both upper and lower
limbs.
Fig. 2: Front picture of the same neonate, hair
distributed over the face, eyebrows, chest and
abdomen.
SJIF Impact Factor 6.222
Case Study
ISSN 2394-3211
EJPMR
EUROPEAN JOURNAL OF PHARMACEUTICAL
AND MEDICAL RESEARCH
www.ejpmr.com
ejpmr, 2022,9(3), 333-335
*Corresponding Author: Dr. K. S. Kumaravel
Professor of Pediatrics Govt Mohan KumaramangalamMedical College, Salem, Tamilnadu, India.

www.ejpmr.com │ Vol 9, Issue 3, 2022. │ ISO 9001:2015 Certified Journal │
Kumaravel et al. European Journal of Pharmaceutical and Medical Research
334
Fig. 3: Four months old baby picture of the same case
during follow-up, hair distribution over the back,
face, extensor aspects resolved to a greater extent.
DISCUSSION
Hypertrichosis is a very rare disorder where hair
develops on any part of the body in an amount that is
more than present on another individual of the same age,
sex and race, excluding the androgen-dependent areas of
hair growth.[1] It can be congenital or acquired.[2,3]
Among the congenital types, one type is Congenital
Hypertrichosis Lanuginosa (CHL), in which the patient
presents with soft, non-pigmented and non-medullated
lanugo hair, distributed all over the body except palms
and soles, as lanugo hair has not been replaced by
terminal hairs. This form has been reported in patients
with abnormalities of chromosome 8q and as autosomal
dominant trait inheritance. Another variant is Congenital
Hypertrichosis Universalis, where the clinical
presentation is the same but terminal hair is present from
birth instead of lanugo hair. Familial cases with
autosomal dominant inheritance and x-linked inheritance
have been documented. Generalised Hypertrichosis can
be associated with other anomalies such as gingival
fibromatosis, amaurosis congenita cone-rod type,
congenital lamellar cataracts, pigmentary retinopathy,
coarse face, obesity, short stature, brachydactyly,
hypo/aplastic nails and intellectual disability.[4] CHL can
also be a component feature of complex syndromes -
Cornelia de Lange syndrome (cutis marmorata, arched
eyebrows, synophyrs), Coffin-Siris syndrome (bushy
eyebrows, abnormal dentition, ear anomalies), Barber-
Say syndrome (atrophic lax skin, a hairy bullous nasal
tip), Wiedmann-Steiner syndrome (hypotonia, short
stature, hypoplastic 12th ribs and a dysplastic hip,
hypoplastic middle phalanx of 5th finger), Cantu
syndrome (wide posterior fossa in the skull, distinctive
osteochondro-dysplasia), Donohue syndrome (congenital
insulin resistance, dwarfism, elfin-like facies),
Rubinstein-Taybi syndrome (bird-like facies,
hypertelorism, microcephaly), Schinzel-Giedion
syndrome (craniofacialdysmorphism, cobblestone
lissencephaly), Gorlin-Chaudry-Moss syndrome
(midfacial flattening, underdeveloped genitals, PDA).
The diagnosis of CHL should be based on a detailed
history, with or without the presence of other anomalies -
particularly of the face, teeth and kidneys. CHL may
cause significant emotional distress, not only in the
affected patient but in the family as well. There are
different approaches to the treatment including cosmetic
procedures such as electro surgical epilation, pulsed light
source, treatment with ruby, alexandrite, diode and
especially ND:YAG laser and pharmacological
treatment.[5,6,7] Topical eflornithine, a selective and
irreversible inhibitor of the enzyme ornithine
decarboxylase, which is found within the hair follicle, is
used as pharmacological therapy.
Although this clinical occurrence is uncommon, it can
encompass a wide range of disorders that might cause
genetic and prognostic issues not only in the patient but
in the subsequent progeny.
REFERENCES
1. Bergfeld W. Hair disorders. In: Solomon LM,
Esterly NP, Dorinda Loeffel E, editors. Major
problems in clinical pediatrics, Volume XIX:
Adolescent Dermatology. Philadelphia: WB
Saunders editors, 1978; 361–6.
2. Beighton P. Congenital hypertrichosis lanuginosa.
Arch Dermatol, 1970; 101(6): 669–72.
3. Solomon LM, Esterly NP. Structure of fetal and
neonatal skin. In: Solomon LM, Esterly NP, editors.
Major problems in clinical pediatrics, Volume IX:
Neonatal Dermatology. Philadelphia: WB Saunders
editors, 1978; 1–19.
4. Goldstein GD, Dunn M. Hirsutism: “assessing hair-
raising topics”. Chest, 1985; 88: 915–6.
5. Stenn KS, Paus R. Controls of hair follicle cycling.
Physiol Rev., 2001; 81: 449–94.
6. Trüeb RM. Causes and management of
hypertrichosis. Am J ClinDermatol, 002; 3: 617–27.
7. Wendelin DS, Pope DN, Mallory SB.
Hypertrichosis. J Am AcadDermatol, 2003; 48:
161–7.