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\begin{document}

\title{Clinical Approach to a child with Poikiloderma: A case report}



\author[1]{Samir Shrestha}%
\author[1]{Sudha Agrawal}%
\affil[1]{BP Koirala Institute of Health Sciences}%


\vspace{-1em}



  
  \date{June 07, 2024}


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\selectlanguage{english}
\begin{abstract}
Rothmund-Thomson Syndrome is a rare autosomal recessive condition
presenting usually in infancy that can be diagnosed based on time of
onset, spreading and appearance of the poikiloderma.The purpose of
reporting this case is to highlight the clinical approach to a child who
presents with the features of poikiloderma.%
\end{abstract}%



\sloppy


\textbf{Introduction}

Rothmund-Thomson Syndrome(RTS) is a rare autosomal recessive disorder,
usually resulting from mutation in RecQL helicase gene that functions
during DNA repair.\textsuperscript{1} It presents in infancy with
erythematous macule or plaque often associated with blisters and edema
that progress to develop poikiloderma initially involving face and later
to other sun-exposed sites. The characteristic onset and progression of
poikiloderma helps to differentiate it from other causes of early onset
poikiloderma.\textsuperscript{2} Further it is characterized by
heterogenous features like short stature, skeletal abnormalities,
cataract, premature ageing, abnormalities of hair, nail and
teeth.\textsuperscript{2} It is associated with increased risk of
osteosarcoma in childhood, cutaneous epithelial neoplasm and
hematological malignancies in adults.\textsuperscript{2}

\textbf{Case Report}

A 4-year-old girl presented with rash on her face that was noticed by
her mother since 1 month following birth. She was
3\textsuperscript{rd}of the 5 children born at full term via normal
vaginal delivery at home to consanguineous parents. Initially, the
mother noticed erythematous macules and plaques on bilateral cheek that
gradually developed areas of hypopigmentation and telangiectasia within
6 months (Fig 1a). Lesions with similar morphology and progression
appeared to involve shoulder (Fig 1b) followed by V-area of neck after a
year that was aggravated on exposure to sunlight. There was no history
of hair loss, recurrent respiratory infection, oral ulcer, feeding
problems, dental, ocular or neurological symptoms. On family history (as
presented by pedigree in Fig 2) there was demise of a
4\textsuperscript{th} child at birth and history of similar skin lesion
on 8 months old 5\textsuperscript{th}child who developed the lesions at
2 months following birth (Fig. 1a).

On cutaneous examination, there were multiple ill-defined erythematous
plaques on bilateral cheek, dorsum of nose, V-area of neck and right
shoulder with areas of dyspigmentation, atrophy and telangiectasia.
Height of the child was less than 3\textsuperscript{rd} percentile for
age and weight was at 10\textsuperscript{th} percentile for age (as per
WHO growth chart). There was no abnormalities detected on systemic
examination. Baseline complete blood count, Anti-nuclear antibody,
Comprehensive metabolic panel and X-ray of bilateral hand was normal.
Karyotype analysis and gene sequencing was not done due to
unavailability. RTS was diagnosed, and the patient was advised for
sun-protective behaviors and annual evaluation for the eyes, skin and
bone.

\textbf{DISCUSSION}

RTS presents at three to six months' age with erythematous macule or
plaque over face, sometimes associated with blisters and edema which
gradually progress to involve extremities and gluteal regions sparing
trunk and abdomen. \textsuperscript{1} Gradually, poikiloderma develops
over the initial lesion that persist throughout the life. In few of the
cases, there might be systemic involvement that includes dental
abnormalities (microdontia, conical teeth, frequent caries, loss of
teeth), ocular involvement (bilateral subscapular cataract) and bone
abnormalities (absent or deformed radii, deformed ulnar bone, short
hands and feet, aplasia of thumb, delayed bone age and
osteoporosis)\textsuperscript{1}. There is increased risk of
osteosarcoma in childhood and epithelial neoplasms in
adult.\textsuperscript{2} Patients have a normal life span unless
associated with malignancy. Strict photoprotection and routine screening
for malignancy are the mainstay of management.

Patients in our case had characteristic rash of RTS developing at one
month's age, initially acute features of rash which developed into
poikiloderma that was persistent with typical distribution pattern and
had delayed growth. However other systemic features of RTS were absent.

Detailed history and careful examination may aid in differentiating
other causes of childhood poikiloderma. Acrogeria manifests at the time
of birth or shortly afterwards with poikiloderma limited to acral
parts\textsuperscript{3}. Hereditary sclerosing poikiloderma presents in
childhood with generalized poikiloderma with accentuation in flexures
and extensor surfaces along with sclerodermatous plaques on palms and
soles\textsuperscript{4}. Dyskeratosis congenita is characterized by
triad of severe nail involvement, poikiloderma conspicuous over neck and
leucoplakia at a later age\textsuperscript{5}. Kindler syndrome is
characterized by poikiloderma that develops at the age of 2 to 3 years
in photo-exposed sites along with acral blisters and mucosal
stenosis\textsuperscript{2}. Patients with Cockayne's syndrome develops
poikiloderma that spreads centripetally starting from distal limbs along
with typical facies, limb abnormalities, wasting and neurological
manifestations\textsuperscript{6}. Rare disorders like Bloom's syndrome,
Fanconi's anemia and Ataxia telangiectasia present with prominent
telangiectasia and characteristic facies\textsuperscript{2}.

\textbf{Reference:}

\begin{enumerate}
\tightlist
\item
  Wang LL, Levy ML, Lewis RA, et. al. Clinical manifestations in a
  cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet.
  2001;102:11-17.
\item
  Vennos EM, Collins M, James WD. Rothmund-Thomson Symdrome: Review of
  the world literature. J Am Acad Dermatol. 1992; 27:750-62.
\item
  Sunil Sanghi and et. al. A rare case of acrogeria. Med J Armed Forces
  India. 2013; 69(4): 406-8.
\item
  Hyo Jin Lee and et. al. Hereditary Sclerosing Poikiloderma.
  2012;27(2):224-27
\item
  Shiferaw B. and et.al. A case report on a rare disease : dyskeratosis
  congenita. J Clin Med Res. 2015;7(5):361-3.
\item
  Ajoy C. Karikkineth. Cockayne syndrome: clinical features, model
  systems and pathways. Ageing Res Rev. 2017;33(1):3-17.
\end{enumerate}\selectlanguage{english}
\begin{figure}[H]
\begin{center}
\includegraphics[width=0.70\columnwidth]{figures/image1/image1}

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{[} Figure 1a showing erythematous plaques on bilateral cheek, bridge of
nose, V-area of neck in both the siblings{]}\selectlanguage{english}
\begin{figure}[H]
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\includegraphics[width=0.70\columnwidth]{figures/image2/image2}

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{[}Fig. 1 b showing erythematous plaques along with atrophy,
dyspigmentation and telangiectasia on right shoulder{]}\selectlanguage{english}
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\includegraphics[width=0.70\columnwidth]{figures/image3/image3}

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{[} Fig. 2 showing pedigree of the child{]}\selectlanguage{english}
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\includegraphics[width=0.70\columnwidth]{figures/Fig-1b/Fig-1b}

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\end{figure}\selectlanguage{english}
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\includegraphics[width=0.70\columnwidth]{figures/Screen-Shot-2021-08-03-at-12/Screen-Shot-2021-08-03-at-12}

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