Letters to the Editor
Monilethrix, a rare inherited
hair shaft disorder in siblings
Sir,
The term monilethrix derives from both the Latin
monile (necklace) and the Greek thrix (hair). The hair shaft
has a beaded appearance due to the presence of elliptical
nodes that have the diameter of normal hair and are medullated,
regularly separated by internodes that are narrow, devoid of
medulla, and are the site of fracture.[1]
Hair is normal at birth and is replaced with abnormal hair within
first few months of life. The hair is beaded and fragile hair that
tends to break at points of narrowing, thus leading to short,
stubby hair, especially in the sites of friction such as the nape
and occipital areas. Follicular keratosis of the affected scalp
and keratosis pilaris are also typical. The severity of monilethrix
considerably varies even among members of the same family
and may range from an almost normal scalp, to total alopecia.[1,2]
Figure 1: Sparse and short hairs over the occipital area of an 8-year-
old boy. Both children having follicular papules over the nape of neck
Figure 3: Sparse and short hairs over bitemporoparietal region
Indian Dermatology Online Journal - July-September 2014 - Volume 5 - Issue 3
In some cases, the eyebrows and eyelashes, pubic and axillary
hair, and general body hair may be affected. It may also be
associated with koilonychia and rarely, systemic disturbances
such as mental and physical retardation, syndactyly, cataract,
teeth, and nail anomalies.[3]
An 8-year-old boy, born of a nonconsanguineous marriage,
presented with diffuse hair loss after few months of birth. The
boy was born at full term after an uncomplicated pregnancy.
Hair was easily breakable and also there were tiny discrete
lesions over the nape of neck and occipital area. His 10-year-old
sister also had complaints of easy breakability of hair along with
tiny papules over the nape of neck [Figure 1]. No other family
member was having similar complaints.
Macroscopic inspection of the scalp showed fine, short, and
sparse hairs over the bilateral parietal and occipital region
with no sign of scarring of the scalp skin, but hairs were
easily breakable [Figures 2 and 3]. Follicular papules over the
occipital and nape of neck region were favoring keratotic pilaris.
Examination of occipital hairs by microscopy [Figure 4a and b]
revealed elliptical nodes resulting in a beaded appearance of
the hair shafts. Developmental examination found his cognitive
status to be adequate for age without any signs of mental
disorder. There was no nail, dental, or sweat gland abnormality
Figure 2: Sparse and short hairs over bitemporoparietal region
a b
Figure 4: (a and b) ×100 Microscopy of hair shows nodes and inter
nodes at regular interval with absence of medulla in intermodal region
(a: Boy, b: Girl)
339
 Letters to the Editor

found after thorough physical examination in both children.
Routine laboratory screenings was within range in both siblings.
Monilethrix is generally considered to be an autosomal-dominant
disorder with variable penetrance. It is caused by mutations
of the genes encoding type 2 hair keratins, hHb1 and hHb6.
It is mapped to epithelial keratin gene cluster on 12q11-q13.
Defective keratins in cortical cells, leading to wrinkling of
the cells at internodes and makes them fragile. While nodes
represent normal growth.[4] Mutations have been found in
desmoglein 4 in the autosomal-recessive form.[2]
The variability of the monilethrix phenotype suggests that other
factors also affect gene or disease expression. That was observed
in our cases too, both siblings presented with variable severity of
the same condition (the boy was affected more than his sister).
Address for correspondence:
Dr. Rita V Vora,
Department of Skin and Venereal Diseases, Pramukh Swami
Medical College, Karamsad - 388 325, Gujarat, India.
E-mail: ritavv@charutarhealth.org
REFERENCES
1. Lencastre A, Tosti A. Monilethrix. J Pediatr 2012;161:1176.
2. Messenger AG, Berker DA, Sinclair RD. Disorders of hair. In: Burns DA,
Breathnach SM, Cox NH, Griffi CE, EditorS. Rook’s Textbook of
Dermatology. 8th ed. Hoboken: Blackwell Publishing Ltd; 2010. p. 66.61-3.
3. Sandhu K, Handa S, Kanwar AJ. Monilethrix. Indian J Dermatol
2002;47:169-70.
4. Djabali K, Panteleyev AA, Lalin T, Garzon MC, Longley BJ,
Bickers DR. et al. Recurrent missense mutations in the hair keratin gene
hHb6 in monilethrix. Clin Exp Dermatol 2003;28:206-10.
5. Vikramkumar AG, Kuruvila S, Ganguly S. Monilethrix: A rare hereditary
condition. Indian J Dermatol 2013;58:243.

Various treatment modalities such as griseofulvin, retinoids,

Access this article online
topical 2% minoxidil, and oral N-acetyl cysteine[2,5] have shown
Quick Response Code:
temporary and reversible improvement in isolated cases. No
effective treatment is currently available. Website: www.idoj.in

Rita V Vora, Gopikrishnan Anjaneyan, Malay J Mehta DOI:

10.4103/2229-5178.137795
Department of Skin and Venereal Diseases, Pramukh Swami
Medical College, Karamsad, Gujarat, India

Pseudokaposi’s sarcoma and chromoblastomycosis were considered. Complete blood

Sir,
Pseudo-Kaposi’s sarcoma, also known as Acroangiodermatitis
of Mali is a rare skin disease that can mimic Kaposi’s sarcoma
both clinically and histopathologically.
We present a case of pseudo-Kaposi’s sarcoma without clinical
evidence of venous insufficiency but later detected by Doppler
studies, and responded well to treatment with dapsone. The
histological features were characteristic.
count, abdominal ultrasonography, and chest radiography
were normal.
Mantoux test was negative. Enzyme-linked immunosorbent
assay for human immunodeficiency virus was nonreactive. Skin
biopsy showed moderate irregular epidermal hyperplasia with a
thick compact orthokeratotic horny layer. The papillary dermis
was markedly thickened and showed proliferation of numerous
thick-walled capillaries along with numerous siderophages

A 23-year-old man presented with a nonhealing raised and

exudative lesion of one year duration on the lateral aspect of
the right leg. It started spontaneously as a small ulcer without
any history of trauma and progressed for about 2 months to
reach the present size [Figure 1]. The patient did not have pain
or other symptoms.

On examination, there was a single hyperpigmented, ill-defined

plaque of 15 × 10 cm size on the lateral aspect of right leg.
The surface was studded with small papular excrescences.
The surrounding skin was normal.

General and systemic examinations did not reveal any Figure 1: Hyperpigmented plaque on the lateral aspect of right leg
abnormalities. Differential diagnosis of Kaposi’s sarcoma showing papular excrescences

340 Indian Dermatology Online Journal - July-September 2014 - Volume 5 - Issue 3

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